#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
NPY5R	4889	broad.mit.edu	37	4	164271862	164271862	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:164271862C>G	ENST00000515560.1	+	4	1959	c.437C>G	c.(436-438)cCc>cGc	p.P146R	NPY5R_ENST00000338566.3_Missense_Mutation_p.P146R|NPY5R_ENST00000506953.1_Missense_Mutation_p.P146R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	146					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATAAAACATCCCATATCTAAT	0.358																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(436-438)cCc>cGc		neuropeptide Y receptor Y5							185.0	188.0	187.0					4																	164271862		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271862C>G	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.437C>G	4.37:g.164271862C>G	ENSP00000423917:p.Pro146Arg					NPY5R_ENST00000338566.3_Missense_Mutation_p.P146R|NPY5R_ENST00000506953.1_Missense_Mutation_p.P146R	p.P146R			Q15761	NPY5R_HUMAN			4	1959	+	all_hematologic(180;0.166)	Prostate(90;0.109)	146					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.437C>G	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780042	0.49891	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.61274	0.12;0.12;0.12	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	D	0.83362	0.5238	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88248	0.2914	10	0.87932	D	0	.	18.9152	0.92503	0.0:1.0:0.0:0.0	.	146	Q15761	NPY5R_HUMAN	R	146	ENSP00000339377:P146R;ENSP00000423917:P146R;ENSP00000423474:P146R	ENSP00000339377:P146R	P	+	2	0	NPY5R	164491312	0.997000	0.39634	0.343000	0.25615	0.853000	0.48598	4.023000	0.57211	2.533000	0.85409	0.591000	0.81541	CCC		0.358	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		77	123	0	0	0	1	0	77	123				
DLGAP4	22839	broad.mit.edu	37	20	35060731	35060731	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:35060731G>C	ENST00000373907.2	+	2	810	c.611G>C	c.(610-612)tGg>tCg	p.W204S	DLGAP4_ENST00000373913.3_Missense_Mutation_p.W204S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.W204S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.W204S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	204					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATCTCAGGCTGGTGGAGCTCC	0.677																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(610-612)tGg>tCg		discs, large (Drosophila) homolog-associated protein 4							39.0	48.0	45.0					20																	35060731		2203	4299	6502	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060731G>C	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.611G>C	20.37:g.35060731G>C	ENSP00000363014:p.Trp204Ser					DLGAP4_ENST00000373907.2_Missense_Mutation_p.W204S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.W204S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.W204S	p.W204S			Q9Y2H0	DLGP4_HUMAN			3	1091	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	204					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.611G>C		.	.	.	.	.	.	.	.	.	.	G	17.51	3.407491	0.62399	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.18810	2.19;2.19;2.21;2.21	5.24	5.24	0.73138	.	0.257993	0.41500	D	0.000874	T	0.45975	0.1369	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.46555	-0.9183	10	0.87932	D	0	.	17.8061	0.88601	0.0:0.0:1.0:0.0	.	204	Q9Y2H0-1	.	S	204	ENSP00000363023:W204S;ENSP00000384954:W204S;ENSP00000363014:W204S;ENSP00000341633:W204S	ENSP00000341633:W204S	W	+	2	0	DLGAP4	34494145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.157000	0.64911	2.438000	0.82558	0.462000	0.41574	TGG		0.677	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		21	31	0	0	0	1	0	21	31				
DDX3Y	8653	broad.mit.edu	37	Y	15028886	15028886	+	Silent	SNP	A	A	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrY:15028886A>C	ENST00000336079.3	+	15	1783	c.1677A>C	c.(1675-1677)gtA>gtC	p.V559V	DDX3Y_ENST00000360160.4_Silent_p.V559V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	559	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATCTTCTTGTAGAAGCTAAAC	0.373																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1675-1677)gtA>gtC		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked							43.0	43.0	43.0					Y																	15028886		583	1915	2498	SO:0001819	synonymous_variant	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15028886A>C	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.1677A>C	Y.37:g.15028886A>C						DDX3Y_ENST00000360160.4_Silent_p.V559V	p.V559V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			15	1783	+			559			Helicase C-terminal.		B4DK29|B4DXX7|Q8IYV7	Silent	SNP	ENST00000336079.3	37	c.1677A>C	CCDS14782.1																																																																																				0.373	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		16	4	0	0	0	1	0	16	4				
LRRC8A	56262	broad.mit.edu	37	9	131671215	131671215	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:131671215C>T	ENST00000259324.5	+	3	2295	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	LRRC8A_ENST00000372599.3_Missense_Mutation_p.A591V|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A591V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	591					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						AAGAAGATGGCGAACCTGACT	0.572																																						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.(1771-1773)gCg>gTg		leucine rich repeat containing 8 family, member A							121.0	99.0	107.0					9																	131671215		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671215C>T	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.1772C>T	9.37:g.131671215C>T	ENSP00000259324:p.Ala591Val					LRRC8A_ENST00000372600.4_Missense_Mutation_p.A591V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A591V	p.A591V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2295	+			591					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1772C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	0.650	-0.809976	0.02798	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.24538	1.85;1.85;1.85	5.53	3.24	0.37175	.	0.114643	0.64402	N	0.000017	T	0.07548	0.0190	N	0.01522	-0.82	0.31680	N	0.643249	B	0.02656	0.0	B	0.01281	0.0	T	0.29731	-1.0002	10	0.08179	T	0.78	.	7.9299	0.29897	0.0:0.1766:0.0:0.8234	.	591	Q8IWT6	LRC8A_HUMAN	V	591	ENSP00000361682:A591V;ENSP00000361680:A591V;ENSP00000259324:A591V	ENSP00000259324:A591V	A	+	2	0	LRRC8A	130711036	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.269000	0.58890	0.419000	0.25927	-0.367000	0.07326	GCG		0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		9	60	0	0	0	1	0	9	60				
DGKI	9162	broad.mit.edu	37	7	137092658	137092658	+	Silent	SNP	G	G	A	rs147042344		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:137092658G>A	ENST00000288490.5	-	31	2907	c.2907C>T	c.(2905-2907)acC>acT	p.T969T	DGKI_ENST00000446122.1_Silent_p.T951T|DGKI_ENST00000424189.2_Silent_p.T982T|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Silent_p.T638T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	969					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.T969T(2)		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						CCCCGTTGCCGGTTTTAGCTG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		21219	0.0		0.001	False		,,,				2504	0.0					ENST00000453654.1																			2	Substitution - coding silent(2)	p.T969T(2)	endometrium(2)	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.(1912-1914)acC>acT		diacylglycerol kinase, iota		G		1,4405	2.1+/-5.4	0,1,2202	209.0	178.0	188.0		2907	-0.0	1.0	7	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DGKI	NM_004717.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		969/1066	137092658	2,13004	2203	4300	6503	SO:0001819	synonymous_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.chr7:137092658G>A	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.2907C>T	7.37:g.137092658G>A						DGKI_ENST00000288490.5_Silent_p.T969T|DGKI_ENST00000446122.1_Silent_p.T951T|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Silent_p.T982T	p.T638T			O75912	DGKI_HUMAN			30	2453	-			969					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.1914C>T	CCDS5845.1																																																																																				0.428	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		61	115	0	0	0	1	0	61	115				
BBS7	55212	broad.mit.edu	37	4	122747113	122747113	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:122747113A>C	ENST00000264499.4	-	19	2233	c.2050T>G	c.(2050-2052)Ttt>Gtt	p.F684V	CCNA2_ENST00000274026.5_5'Flank	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	684					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						GTGCCTTTAAACTTAAATTTA	0.308									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.(2050-2052)Ttt>Gtt		Bardet-Biedl syndrome 7							69.0	73.0	72.0					4																	122747113		2202	4298	6500	SO:0001583	missense	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.chr4:122747113A>C	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.2050T>G	4.37:g.122747113A>C	ENSP00000264499:p.Phe684Val						p.F684V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			19	2233	-			684					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.2050T>G	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.577666	0.86645	.	.	ENSG00000138686	ENST00000264499;ENST00000507814	T;T	0.77229	-1.08;-1.08	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.90465	0.4449	10	0.54805	T	0.06	-14.163	16.1773	0.81862	1.0:0.0:0.0:0.0	.	684	Q8IWZ6	BBS7_HUMAN	V	684;107	ENSP00000264499:F684V;ENSP00000423250:F107V	ENSP00000264499:F684V	F	-	1	0	BBS7	122966563	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	9.193000	0.94954	2.217000	0.71921	0.482000	0.46254	TTT		0.308	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			11	23	0	0	0	1	0	11	23				
GRAMD4	23151	broad.mit.edu	37	22	47069586	47069586	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr22:47069586G>A	ENST00000406902.1	+	15	1472	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	GRAMD4_ENST00000408031.1_5'Flank|GRAMD4_ENST00000361034.3_Missense_Mutation_p.R420Q			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	420					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)		ACCTCGTCACGGAGCTACGTA	0.637																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(1258-1260)cGg>cAg		GRAM domain containing 4							73.0	76.0	75.0					22																	47069586		2203	4300	6503	SO:0001583	missense	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47069586G>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.1259G>A	22.37:g.47069586G>A	ENSP00000385689:p.Arg420Gln					GRAMD4_ENST00000361034.3_Missense_Mutation_p.R420Q	p.R420Q			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	15	1472	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	420					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	c.1259G>A	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.356130	0.82243	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.51574	0.7;0.7	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000003	T	0.55800	0.1943	L	0.36672	1.1	0.51012	D	0.999907	D	0.71674	0.998	P	0.58970	0.849	T	0.59295	-0.7481	10	0.62326	D	0.03	-34.4295	16.7981	0.85607	0.0:0.0:1.0:0.0	.	420	Q6IC98	GRAM4_HUMAN	Q	420	ENSP00000385689:R420Q;ENSP00000354313:R420Q	ENSP00000354313:R420Q	R	+	2	0	GRAMD4	45448250	1.000000	0.71417	0.978000	0.43139	0.100000	0.18952	6.323000	0.72891	2.298000	0.77334	0.313000	0.20887	CGG		0.637	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		34	97	0	0	0	1	0	34	97				
CHRM4	1132	broad.mit.edu	37	11	46407006	46407006	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:46407006G>A	ENST00000433765.2	-	1	1101	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	368					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R368S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCGCAGGGCGCATGCCAGCC	0.627																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			1	Substitution - Missense(1)	p.R368S(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(1102-1104)Cgc>Tgc		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						99.0	109.0	106.0					11																	46407006		2130	4226	6356	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407006G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1102C>T	11.37:g.46407006G>A	ENSP00000409378:p.Arg368Cys						p.R368C	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1101	-			368					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1102C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	14.43	2.532921	0.45073	.	.	ENSG00000180720	ENST00000433765	T	0.60797	0.16	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75125	0.3807	M	0.85542	2.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	T	0.78661	-0.2117	9	0.66056	D	0.02	-21.0621	10.8456	0.46741	0.0868:0.0:0.9132:0.0	.	368	P08173	ACM4_HUMAN	C	368	ENSP00000409378:R368C	ENSP00000409378:R368C	R	-	1	0	CHRM4	46363582	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	5.336000	0.65935	2.307000	0.77673	0.457000	0.33378	CGC		0.627	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		5	167	0	0	0	1	0	5	167				
ALDH1A1	216	broad.mit.edu	37	9	75567854	75567854	+	Silent	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:75567854A>T	ENST00000297785.3	-	1	117	c.63T>A	c.(61-63)acT>acA	p.T21T	ALDH1A1_ENST00000376939.1_Silent_p.T21T|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	21					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TACTCACCTTAGTATATTGAA	0.403																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(61-63)acT>acA		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						94.0	87.0	89.0					9																	75567854		2203	4299	6502	SO:0001819	synonymous_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75567854A>T	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.63T>A	9.37:g.75567854A>T						ALDH1A1_ENST00000376939.1_Silent_p.T21T|ALDH1A1_ENST00000482210.1_5'UTR	p.T21T	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			1	117	-			21					O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	c.63T>A	CCDS6644.1																																																																																				0.403	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			21	39	0	0	0	1	0	21	39				
HEATR9	256957	broad.mit.edu	37	17	34192348	34192348	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:34192348C>A	ENST00000311880.2	-	3	339	c.191G>T	c.(190-192)aGc>aTc	p.S64I	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.S64I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		64					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTTTGGCTTGCTCGGATGCTG	0.557																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(190-192)aGc>aTc		chromosome 17 open reading frame 66							161.0	130.0	141.0					17																	34192348		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34192348C>A																												ENST00000311880.2:c.191G>T	17.37:g.34192348C>A	ENSP00000309560:p.Ser64Ile					C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.S64I	p.S64I	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	3	339	-		Ovarian(249;0.17)	64					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.191G>T	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835890	0.71373	.	.	ENSG00000172653	ENST00000311880	T	0.52057	0.68	4.27	0.562	0.17290	.	1.014930	0.07872	N	0.968038	T	0.44705	0.1306	L	0.36672	1.1	0.09310	N	1	P;P;P	0.48016	0.904;0.799;0.845	P;B;P	0.51355	0.667;0.387;0.467	T	0.34875	-0.9811	10	0.87932	D	0	.	3.2314	0.06750	0.0:0.4646:0.2132:0.3223	.	30;64;64	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	I	64	ENSP00000309560:S64I	ENSP00000309560:S64I	S	-	2	0	C17orf66	31216461	0.001000	0.12720	0.000000	0.03702	0.791000	0.44710	0.003000	0.13083	0.145000	0.18977	0.655000	0.94253	AGC		0.557	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			21	21	1	0	2.70639e-06	1	2.70639e-06	21	21				
NUP98	4928	broad.mit.edu	37	11	3735065	3735065	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:3735065C>A	ENST00000324932.7	-	19	2980	c.2560G>T	c.(2560-2562)Ggt>Tgt	p.G854C	NUP98_ENST00000359171.4_Missense_Mutation_p.G854C|RNU6-1143P_ENST00000516125.1_RNA|NUP98_ENST00000397007.4_Missense_Mutation_p.G871C|NUP98_ENST00000397004.4_Missense_Mutation_p.G854C|NUP98_ENST00000355260.3_Missense_Mutation_p.G854C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	871	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACCCAAGAACCAGTTTCAGGC	0.398			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2560-2562)Ggt>Tgt		nucleoporin 98kDa							114.0	97.0	103.0					11																	3735065		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3735065C>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2560G>T	11.37:g.3735065C>A	ENSP00000316032:p.Gly854Cys					NUP98_ENST00000397007.4_Missense_Mutation_p.G871C|NUP98_ENST00000397004.4_Missense_Mutation_p.G854C|NUP98_ENST00000355260.3_Missense_Mutation_p.G854C|NUP98_ENST00000359171.4_Missense_Mutation_p.G854C	p.G854C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	19	2980	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	871			Peptidase S59.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2560G>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497855	0.85069	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86680	0.1916	9	0.87932	D	0	-15.3812	16.5353	0.84371	0.0:1.0:0.0:0.0	.	871;854;854;854	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	C	854;854;854;854;871	.	ENSP00000316032:G854C	G	-	1	0	NUP98	3691641	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.617000	0.83032	2.656000	0.90262	0.655000	0.94253	GGT		0.398	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		31	60	1	0	1.06647e-15	1	1.07917e-15	31	60				
SLC16A9	220963	broad.mit.edu	37	10	61413936	61413936	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:61413936G>A	ENST00000395348.3	-	5	1484	c.848C>T	c.(847-849)gCc>gTc	p.A283V	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A283V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	283					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CTTCCTCTTGGCAAGCTGTTT	0.373																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(847-849)gCc>gTc		solute carrier family 16, member 9							118.0	119.0	118.0					10																	61413936		2203	4300	6503	SO:0001583	missense	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61413936G>A	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.848C>T	10.37:g.61413936G>A	ENSP00000378757:p.Ala283Val					SLC16A9_ENST00000395347.1_Missense_Mutation_p.A283V	p.A283V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			5	1484	-			283					Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	c.848C>T	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516107	0.64634	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.80824	-1.42;-1.42	5.12	5.12	0.69794	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.550524	0.19499	N	0.112798	T	0.76543	0.4002	L	0.47716	1.5	0.42490	D	0.992894	P	0.40144	0.704	B	0.42462	0.388	T	0.74016	-0.3800	10	0.28530	T	0.3	.	11.9721	0.53069	0.0801:0.0:0.9199:0.0	.	283	Q7RTY1	MOT9_HUMAN	V	283	ENSP00000378757:A283V;ENSP00000378756:A283V	ENSP00000378756:A283V	A	-	2	0	SLC16A9	61083942	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.274000	0.65569	2.369000	0.80426	0.591000	0.81541	GCC		0.373	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		4	136	0	0	0	1	0	4	136				
KCNK7	10089	broad.mit.edu	37	11	65360511	65360511	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:65360511C>T	ENST00000340313.4	-	3	1112	c.889G>A	c.(889-891)Gcg>Acg	p.A297T	KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR|AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000394216.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	297					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GCTGGGGCCGCGGGCGGCAGG	0.627																																						ENST00000340313.4																			0				endometrium(1)|liver(1)|lung(1)	3						c.(889-891)Gcg>Acg		potassium channel, subfamily K, member 7							33.0	32.0	33.0					11																	65360511		2201	4297	6498	SO:0001583	missense	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360511C>T	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.889G>A	11.37:g.65360511C>T	ENSP00000344820:p.Ala297Thr					KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR	p.A297T	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN			3	1112	-			297					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.889G>A	CCDS31608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.91|10.91	1.484551|1.484551	0.26598|0.26598	.|.	.|.	ENSG00000173338|ENSG00000173338	ENST00000340313|ENST00000530380	T|.	0.09723|.	2.95|.	4.7|4.7	-3.64|-3.64	0.04515|0.04515	.|.	1.724340|.	0.03434|.	N|.	0.208358|.	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|5	0.14252|.	T|.	0.57|.	.|.	0.484|0.484	0.00552|0.00552	0.1882:0.2423:0.1793:0.3902|0.1882:0.2423:0.1793:0.3902	.|.	297|.	Q9Y2U2|.	KCNK7_HUMAN|.	T|H	297|61	ENSP00000344820:A297T|.	ENSP00000344820:A297T|.	A|R	-|-	1|2	0|0	KCNK7|KCNK7	65117087|65117087	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.209000|0.209000	0.24338|0.24338	-1.716000|-1.716000	0.01878|0.01878	-0.046000|-0.046000	0.13446|0.13446	-0.367000|-0.367000	0.07326|0.07326	GCG|CGC		0.627	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		6	17	0	0	0	1	0	6	17				
HKDC1	80201	broad.mit.edu	37	10	71025575	71025575	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:71025575G>A	ENST00000354624.5	+	17	2739		c.e17+1		RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1						carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGCACCCTCAGTGAGTGCCCA	0.617																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.e17+1		hexokinase domain containing 1							20.0	20.0	20.0					10																	71025575		2203	4298	6501	SO:0001630	splice_region_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71025575G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2606+1G>A	10.37:g.71025575G>A						RP11-227H15.5_ENST00000413220.1_RNA		NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			17	2739	+								B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Splice_Site	SNP	ENST00000354624.5	37		CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211175	0.79240	.	.	ENSG00000156510	ENST00000354624	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0826	0.89445	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HKDC1	70695581	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.657000	0.98554	2.568000	0.86640	0.563000	0.77884	.		0.617	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	Intron	5	17	0	0	0	1	0	5	17				
ZAN	7455	broad.mit.edu	37	7	100371028	100371028	+	RNA	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:100371028A>G	ENST00000348028.3	+	0	5711				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_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)			GAGAGCTGTGAATGTCAGAAA	0.627																																						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)							61.0	67.0	65.0					7																	100371028		2030	4192	6222			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100371028A>G	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.100371028A>G						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5694	+	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			.	.	.	.	.	.	.	.	.	.	A	12.44	1.939279	0.34189	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90844	-2.74;-2.74;-2.74	4.58	4.58	0.56647	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.43260	D	0.000595	D	0.94538	0.8241	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	D	0.93910	0.7196	10	0.41790	T	0.15	.	10.881	0.46937	1.0:0.0:0.0:0.0	.	1849;1849	F5H0T8;Q9Y493	.;ZAN_HUMAN	G	1849	ENSP00000445943:E1849G;ENSP00000445091:E1849G;ENSP00000444427:E1849G	ENSP00000423579:E1849G	E	+	2	0	ZAN	100208964	0.007000	0.16637	0.986000	0.45419	0.205000	0.24178	0.820000	0.27323	2.015000	0.59207	0.247000	0.18012	GAA		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		35	30	0	0	0	1	0	35	30				
NCF4	4689	broad.mit.edu	37	22	37260173	37260173	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr22:37260173T>C	ENST00000248899.6	+	2	301		c.e2+2		NCF4_ENST00000397147.4_Splice_Site|CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	AGCCACTTTGTAAGACAGACT	0.517																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.e2+2		neutrophil cytosolic factor 4, 40kDa							107.0	98.0	101.0					22																	37260173		2203	4300	6503	SO:0001630	splice_region_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37260173T>C	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.117+2T>C	22.37:g.37260173T>C						CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Splice_Site		NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			2	301	+								A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Splice_Site	SNP	ENST00000248899.6	37		CCDS13934.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542164	0.27563	.	.	ENSG00000100365	ENST00000248899;ENST00000397147	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8142	0.63281	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCF4	35590119	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.799000	0.75160	1.915000	0.55452	0.402000	0.26972	.		0.517	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631	Intron	42	46	0	0	0	1	0	42	46				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	105	0	0	0	1	0	4	105				
RHBG	57127	broad.mit.edu	37	1	156347177	156347177	+	Silent	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:156347177C>T	ENST00000368249.1	+	2	311	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Silent_p.G22G|RHBG_ENST00000451864.2_Silent_p.G22G|RHBG_ENST00000400992.2_Silent_p.G22G|RHBG_ENST00000368246.2_Silent_p.G91G	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	91					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCAGCGTGGGCTTCACCTTCC	0.622																																						ENST00000400992.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(64-66)ggC>ggT		Rh family, B glycoprotein (gene/pseudogene)							122.0	126.0	125.0					1																	156347177		2203	4300	6503	SO:0001819	synonymous_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156347177C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.273C>T	1.37:g.156347177C>T						RHBG_ENST00000451864.2_Silent_p.G22G|RHBG_ENST00000255013.3_Silent_p.G22G|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Silent_p.G91G|RHBG_ENST00000368246.2_Silent_p.G91G	p.G22G			Q9H310	RHBG_HUMAN			3	434	+	Hepatocellular(266;0.158)		91					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.66C>T																																																																																					0.622	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		60	107	0	0	0	1	0	60	107				
GNAL	2774	broad.mit.edu	37	18	11881064	11881064	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr18:11881064T>C	ENST00000423027.3	+	12	1397	c.1076T>C	c.(1075-1077)aTc>aCc	p.I359T	GNAL_ENST00000334049.6_Missense_Mutation_p.I436T|GNAL_ENST00000602628.1_Missense_Mutation_p.I152T|GNAL_ENST00000535121.1_Missense_Mutation_p.I359T|GNAL_ENST00000269162.5_Missense_Mutation_p.I359T			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	359					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						ACAGAGAACATCCGCAGGGTG	0.602																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(1306-1308)aTc>aCc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							94.0	64.0	74.0					18																	11881064		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11881064T>C	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.1076T>C	18.37:g.11881064T>C	ENSP00000408489:p.Ile359Thr					GNAL_ENST00000269162.5_Missense_Mutation_p.I359T|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000423027.3_Missense_Mutation_p.I359T|GNAL_ENST00000602628.1_Missense_Mutation_p.I152T|GNAL_ENST00000535121.1_Missense_Mutation_p.I359T	p.I436T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			12	1915	+			359					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.1307T>C	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895320	0.91962	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.55	5.55	0.83447	.	0.226228	0.52532	N	0.000070	D	0.94631	0.8269	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.989;0.993	D	0.95335	0.8433	10	0.87932	D	0	.	15.6863	0.77411	0.0:0.0:0.0:1.0	.	359;436	P38405;Q86XU3	GNAL_HUMAN;.	T	298;436;359;359;359;152	ENSP00000334051:I436T;ENSP00000439023:I359T;ENSP00000269162:I359T;ENSP00000408489:I359T	ENSP00000269162:I359T	I	+	2	0	GNAL	11871064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.968000	0.87980	2.094000	0.63399	0.460000	0.39030	ATC		0.602	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		13	25	0	0	0	1	0	13	25				
TYW1B	441250	broad.mit.edu	37	7	72040530	72040530	+	RNA	SNP	T	T	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:72040530T>G	ENST00000435769.2	-	0	2083				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TGATGTCTTGTGTCCTTGGGA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							217.0	164.0	180.0					7																	72040530		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040530T>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040530T>G										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		62	54	0	0	0	1	0	62	54				
SLC6A11	6538	broad.mit.edu	37	3	10967724	10967724	+	Silent	SNP	G	G	A	rs147839581		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:10967724G>A	ENST00000254488.2	+	9	1221	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	385					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A385A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	ACCCCAAGGCGGTCACCATGA	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		17193	0.0		0.001	False		,,,				2504	0.0					ENST00000254488.2																			1	Substitution - coding silent(1)	p.A385A(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1153-1155)gcG>gcA		solute carrier family 6 (neurotransmitter transporter), member 11		A		0,4406		0,0,2203	246.0	253.0	251.0		1155	-4.6	1.0	3	dbSNP_134	251	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		385/633	10967724	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10967724G>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1155G>A	3.37:g.10967724G>A							p.A385A	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	9	1221	+			385					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1155G>A	CCDS2602.1																																																																																				0.587	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		111	178	0	0	0	1	0	111	178				
WSCD1	23302	broad.mit.edu	37	17	5984015	5984015	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:5984015C>T	ENST00000574946.1	+	2	427	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD1_ENST00000539421.1_Missense_Mutation_p.R13C|WSCD1_ENST00000317744.5_Missense_Mutation_p.R13C|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000574232.1_Missense_Mutation_p.R13C			Q658N2	WSCD1_HUMAN	WSC domain containing 1	13						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAAGTTTCTCCGCCGAACACA	0.662																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(37-39)Cgc>Tgc		WSC domain containing 1							42.0	41.0	41.0					17																	5984015		2122	4103	6225	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5984015C>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.37C>T	17.37:g.5984015C>T	ENSP00000460825:p.Arg13Cys					WSCD1_ENST00000539421.1_Missense_Mutation_p.R13C|WSCD1_ENST00000317744.5_Missense_Mutation_p.R13C|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000574232.1_Missense_Mutation_p.R13C	p.R13C			Q658N2	WSCD1_HUMAN			2	427	+			13					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.37C>T	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.058721	0.76074	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.83075	-1.68;-1.68	5.06	5.06	0.68205	.	0.070564	0.52532	D	0.000079	D	0.86777	0.6014	L	0.47190	1.495	0.44562	D	0.997523	D	0.89917	1.0	D	0.71184	0.972	D	0.87524	0.2448	10	0.87932	D	0	-24.2834	11.1036	0.48190	0.1848:0.8151:0.0:0.0	.	13	Q658N2	WSCD1_HUMAN	C	13	ENSP00000323087:R13C;ENSP00000446032:R13C	ENSP00000323087:R13C	R	+	1	0	WSCD1	5924739	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.470000	0.45119	2.346000	0.79739	0.552000	0.68991	CGC		0.662	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		10	32	0	0	0	1	0	10	32				
AC015849.16	0	broad.mit.edu	37	17	34236594	34236594	+	lincRNA	SNP	T	T	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:34236594T>A	ENST00000587132.1	-	0	1433																											AAGGTTGAAGTGTGACACTGG	0.488																																						ENST00000587132.1																			0																																																			0							g.chr17:34236594T>A																													17.37:g.34236594T>A														0	1433	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.488	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			9	18	0	0	0	1	0	9	18				
BSN	8927	broad.mit.edu	37	3	49695316	49695316	+	Missense_Mutation	SNP	C	C	T	rs369070758		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:49695316C>T	ENST00000296452.4	+	5	8441	c.8327C>T	c.(8326-8328)cCg>cTg	p.P2776L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2776					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)		CACCTGCCTCCGGAGTCTCTC	0.612																																						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.(8326-8328)cCg>cTg		bassoon presynaptic cytomatrix protein		C	LEU/PRO	1,4405		0,1,2202	76.0	80.0	79.0		8327	3.9	1.0	3		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	2776/3927	49695316	2,13004	2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49695316C>T	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.8327C>T	3.37:g.49695316C>T	ENSP00000296452:p.Pro2776Leu						p.P2776L	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)	5	8441	+			2776					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8327C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.406	0.843081	0.16963	2.27E-4	1.16E-4	ENSG00000164061	ENST00000296452	T	0.17691	2.26	5.68	3.9	0.45041	.	0.694969	0.14592	N	0.310216	T	0.14227	0.0344	L	0.29908	0.895	0.47341	D	0.999395	B	0.09022	0.002	B	0.04013	0.001	T	0.03193	-1.1062	10	0.52906	T	0.07	-12.0894	11.8609	0.52465	0.0:0.8595:0.0:0.1405	.	2776	Q9UPA5	BSN_HUMAN	L	2776	ENSP00000296452:P2776L	ENSP00000296452:P2776L	P	+	2	0	BSN	49670320	0.016000	0.18221	0.966000	0.40874	0.837000	0.47467	2.691000	0.47010	0.771000	0.33359	0.561000	0.74099	CCG		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		32	46	0	0	0	1	0	32	46				
SH3GLB1	51100	broad.mit.edu	37	1	87208814	87208814	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:87208814A>G	ENST00000370558.4	+	9	1318	c.994A>G	c.(994-996)Atc>Gtc	p.I332V	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.I353V|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.I232V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	332	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TTTGCAGGTGATCACTGTGTT	0.348																																						ENST00000370558.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11						c.(994-996)Atc>Gtc		SH3-domain GRB2-like endophilin B1							159.0	158.0	158.0					1																	87208814		2203	4300	6503	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87208814A>G	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.994A>G	1.37:g.87208814A>G	ENSP00000473267:p.Ile332Val					SH3GLB1_ENST00000535010.1_Missense_Mutation_p.I232V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.I353V	p.I332V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	9	1318	+		Lung NSC(277;0.209)	332			SH3.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.994A>G	CCDS710.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640497	0.67244	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.56444	0.46;0.46	5.71	5.71	0.89125	Src homology-3 domain (4);	0.091794	0.64402	D	0.000001	T	0.62877	0.2464	M	0.64080	1.96	0.58432	D	0.999994	P;P;D	0.65815	0.709;0.66;0.995	B;B;D	0.70935	0.339;0.245;0.971	T	0.65475	-0.6159	10	0.52906	T	0.07	-10.4425	15.9718	0.80025	1.0:0.0:0.0:0.0	.	232;353;332	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	V	332;232;353	ENSP00000441355:I232V;ENSP00000418744:I353V	ENSP00000212369:I332V	I	+	1	0	SH3GLB1	86981402	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.378000	0.79679	2.177000	0.69029	0.460000	0.39030	ATC		0.348	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		14	23	0	0	0	1	0	14	23				
OR10K1	391109	broad.mit.edu	37	1	158436151	158436151	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:158436151C>T	ENST00000289451.2	+	1	880	c.800C>T	c.(799-801)aCt>aTt	p.T267I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTAATTACACTTCAAGCCAA	0.413																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(799-801)aCt>aTt		olfactory receptor, family 10, subfamily K, member 1							178.0	160.0	166.0					1																	158436151		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436151C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.800C>T	1.37:g.158436151C>T	ENSP00000289451:p.Thr267Ile						p.T267I	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	880	+	all_hematologic(112;0.0378)		267					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.800C>T	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	2.942	-0.218718	0.06101	.	.	ENSG00000173285	ENST00000289451	T	0.00115	8.71	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.407573	0.18148	N	0.150196	T	0.00039	0.0001	N	0.25286	0.73	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32161	-0.9917	10	0.66056	D	0.02	.	15.5475	0.76118	0.0:1.0:0.0:0.0	.	267	Q8NGX5	O10K1_HUMAN	I	267	ENSP00000289451:T267I	ENSP00000289451:T267I	T	+	2	0	OR10K1	156702775	0.000000	0.05858	0.258000	0.24420	0.024000	0.10985	0.213000	0.17521	2.160000	0.67779	0.557000	0.71058	ACT		0.413	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			49	78	0	0	0	1	0	49	78				
BDKRB1	623	broad.mit.edu	37	14	96730919	96730919	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr14:96730919T>G	ENST00000216629.6	+	3	1506	c.900T>G	c.(898-900)ttT>ttG	p.F300L	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	300					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCAACTTCTTTGCCTTCACTA	0.478																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(898-900)ttT>ttG		bradykinin receptor B1							140.0	138.0	138.0					14																	96730919		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730919T>G	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.900T>G	14.37:g.96730919T>G	ENSP00000216629:p.Phe300Leu					BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	p.F300L	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1506	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	300					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.900T>G	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.299993	0.00243	.	.	ENSG00000100739	ENST00000216629	T	0.28454	1.61	4.56	-9.12	0.00707	GPCR, rhodopsin-like superfamily (1);	0.168405	0.41396	N	0.000899	T	0.06462	0.0166	N	0.01505	-0.83	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41556	-0.9502	10	0.05351	T	0.99	-2.4167	11.0173	0.47696	0.0:0.4544:0.2421:0.3035	.	300	P46663	BKRB1_HUMAN	L	300	ENSP00000216629:F300L	ENSP00000216629:F300L	F	+	3	2	BDKRB1	95800672	0.000000	0.05858	0.079000	0.20413	0.036000	0.12997	-2.483000	0.00980	-2.537000	0.00488	-2.948000	0.00085	TTT		0.478	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			58	88	0	0	0	1	0	58	88				
SPOP	8405	broad.mit.edu	37	17	47696430	47696430	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:47696430C>G	ENST00000393328.2	-	6	758	c.393G>C	c.(391-393)tgG>tgC	p.W131C	SPOP_ENST00000393331.3_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C|SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCTTGAATCCCCAGTCTTTGC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tgG>tgC		speckle-type POZ protein							121.0	123.0	122.0					17																	47696430		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696430C>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.393G>C	17.37:g.47696430C>G	ENSP00000377001:p.Trp131Cys	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000503676.1_Missense_Mutation_p.W131C|SPOP_ENST00000393328.2_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C	p.W131C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	863	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.393G>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214115	0.79352	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86651	0.1898	10	0.72032	D	0.01	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	C	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131C;ENSP00000377004:W131C;ENSP00000240327:W131C;ENSP00000425905:W131C;ENSP00000420908:W131C;ENSP00000426986:W131C;ENSP00000420960:W131C;ENSP00000426262:W131C;ENSP00000424119:W131C	ENSP00000240327:W131C	W	-	3	0	SPOP	45051429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		43	82	0	0	0	1	0	43	82				
HECW2	57520	broad.mit.edu	37	2	197298104	197298104	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:197298104C>T	ENST00000260983.3	-	2	226	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	15					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R15Q(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGGGATTTCGACGCCTCAC	0.567																																						ENST00000260983.2																			2	Substitution - Missense(2)	p.R15Q(2)	large_intestine(1)|skin(1)	biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(43-45)cGa>cAa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							72.0	65.0	67.0					2																	197298104		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298104C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.44G>A	2.37:g.197298104C>T	ENSP00000260983:p.Arg15Gln						p.R15Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	226	-			15					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.44G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989976	0.93106	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.36157	1.27;1.4;1.4	5.27	5.27	0.74061	.	0.266376	0.32231	N	0.006397	T	0.60392	0.2265	M	0.65975	2.015	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	T	0.62062	-0.6933	10	0.72032	D	0.01	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	15	Q9P2P5	HECW2_HUMAN	Q	15	ENSP00000260983:R15Q;ENSP00000409918:R15Q;ENSP00000395770:R15Q	ENSP00000260983:R15Q	R	-	2	0	HECW2	197006349	1.000000	0.71417	0.932000	0.37286	0.934000	0.57294	5.436000	0.66538	2.736000	0.93811	0.561000	0.74099	CGA		0.567	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		11	52	0	0	0	1	0	11	52				
AQP9	366	broad.mit.edu	37	15	58465315	58465315	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:58465315G>A	ENST00000219919.4	+	3	657	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	AQP9_ENST00000536493.1_Missense_Mutation_p.R96Q|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.R31Q	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	96					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.R96L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CTCTTTGGACGGATGAAATGG	0.468																																						ENST00000219919.4																			1	Substitution - Missense(1)	p.R96L(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(286-288)cGg>cAg		aquaporin 9							211.0	204.0	206.0					15																	58465315		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465315G>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.287G>A	15.37:g.58465315G>A	ENSP00000219919:p.Arg96Gln					AQP9_ENST00000558772.1_Missense_Mutation_p.R31Q|AQP9_ENST00000536493.1_Missense_Mutation_p.R96Q|ALDH1A2_ENST00000558231.1_Intron	p.R96Q	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	657	+			96					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.287G>A	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789781	0.90367	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.85171	-1.95;-1.95	5.46	4.55	0.56014	Aquaporin-like (2);	0.070870	0.56097	D	0.000024	D	0.89326	0.6683	M	0.63428	1.95	0.45962	D	0.998784	D	0.55605	0.972	P	0.59012	0.85	D	0.90075	0.4166	10	0.59425	D	0.04	.	14.3319	0.66564	0.0704:0.0:0.9296:0.0	.	96	O43315	AQP9_HUMAN	Q	96	ENSP00000219919:R96Q;ENSP00000441390:R96Q	ENSP00000219919:R96Q	R	+	2	0	AQP9	56252607	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	5.650000	0.67944	1.548000	0.49413	0.655000	0.94253	CGG		0.468	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		33	118	0	0	0	1	0	33	118				
ATG13	9776	broad.mit.edu	37	11	46671735	46671735	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:46671735A>G	ENST00000434074.1	+	6	1015	c.326A>G	c.(325-327)aAa>aGa	p.K109R	ATG13_ENST00000451945.1_Missense_Mutation_p.K109R|ATG13_ENST00000312040.4_Missense_Mutation_p.K109R|ATG13_ENST00000528494.1_Missense_Mutation_p.K109R|ATG13_ENST00000529655.1_Missense_Mutation_p.K109R|ATG13_ENST00000530500.1_Missense_Mutation_p.K30R|ATG13_ENST00000526508.1_Missense_Mutation_p.K109R|ATG13_ENST00000359513.4_Missense_Mutation_p.K109R|ATG13_ENST00000524625.1_Missense_Mutation_p.K109R	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	109					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGGTGTGATAAAGAAATCAAA	0.433																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(325-327)aAa>aGa		autophagy related 13							117.0	112.0	113.0					11																	46671735		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46671735A>G	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.326A>G	11.37:g.46671735A>G	ENSP00000400642:p.Lys109Arg					ATG13_ENST00000528494.1_Missense_Mutation_p.K109R|ATG13_ENST00000530500.1_Missense_Mutation_p.K30R|ATG13_ENST00000524625.1_Missense_Mutation_p.K109R|ATG13_ENST00000529655.1_Missense_Mutation_p.K109R|ATG13_ENST00000451945.1_Missense_Mutation_p.K109R|ATG13_ENST00000359513.4_Missense_Mutation_p.K109R|ATG13_ENST00000312040.4_Missense_Mutation_p.K109R|ATG13_ENST00000526508.1_Missense_Mutation_p.K109R	p.K109R	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			6	1015	+			109					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.326A>G	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196160	0.58126	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.65	5.65	0.86999	.	0.046113	0.85682	D	0.000000	T	0.43942	0.1270	L	0.34521	1.04	0.50813	D	0.999896	B;B;B;B	0.22800	0.006;0.009;0.075;0.01	B;B;B;B	0.21917	0.011;0.015;0.037;0.009	T	0.33929	-0.9849	9	0.19147	T	0.46	-7.3547	10.2577	0.43408	0.9264:0.0:0.0736:0.0	.	30;109;109;109	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	R	109;109;109;109;109;109;30;109;109;109;109;109	.	ENSP00000310321:K109R	K	+	2	0	ATG13	46628311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.536000	0.82023	2.155000	0.67459	0.533000	0.62120	AAA		0.433	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		21	44	0	0	0	1	0	21	44				
OR5A2	219981	broad.mit.edu	37	11	59189861	59189861	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:59189861G>A	ENST00000302040.4	-	1	588	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ATCAGAGCAGGACAGAGCCAG	0.458																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(565-567)tCc>tTc		olfactory receptor, family 5, subfamily A, member 2							106.0	92.0	97.0					11																	59189861		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189861G>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.566C>T	11.37:g.59189861G>A	ENSP00000303834:p.Ser189Phe						p.S189F	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	588	-			189					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.566C>T	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164186	0.94727	.	.	ENSG00000172324	ENST00000302040	T	0.00299	8.22	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.237817	0.21414	U	0.074926	T	0.00967	0.0032	M	0.91920	3.255	0.27621	N	0.948354	D	0.67145	0.996	D	0.70227	0.968	T	0.27872	-1.0061	10	0.87932	D	0	.	17.1743	0.86837	0.0:0.0:1.0:0.0	.	189	Q8NGI9	OR5A2_HUMAN	F	189	ENSP00000303834:S189F	ENSP00000303834:S189F	S	-	2	0	OR5A2	58946437	0.637000	0.27216	0.106000	0.21319	0.988000	0.76386	4.009000	0.57110	2.740000	0.93945	0.585000	0.79938	TCC		0.458	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		14	29	0	0	0	1	0	14	29				
ARHGAP20	57569	broad.mit.edu	37	11	110451506	110451506	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:110451506A>T	ENST00000260283.4	-	16	2448	c.2164T>A	c.(2164-2166)Tat>Aat	p.Y722N	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.Y265N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.Y699N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	722					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(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTTTTCTGATAAAACTCCCTG	0.478																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(2164-2166)Tat>Aat		Rho GTPase activating protein 20							60.0	62.0	61.0					11																	110451506		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451506A>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2164T>A	11.37:g.110451506A>T	ENSP00000260283:p.Tyr722Asn					ARHGAP20_ENST00000527598.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.Y686N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.Y696N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.Y265N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.Y699N	p.Y722N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	2448	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	722					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.2164T>A	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364601	0.41902	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10960	2.82;2.83;2.86;2.82;2.83;2.83;2.83	5.85	5.85	0.93711	.	0.191733	0.37669	N	0.001992	T	0.25457	0.0619	M	0.72894	2.215	0.09310	N	0.999992	D;D;D	0.71674	0.998;0.994;0.998	D;P;D	0.66979	0.948;0.841;0.948	T	0.26849	-1.0091	10	0.27785	T	0.31	.	7.1912	0.25826	0.8781:0.0:0.1219:0.0	.	696;722;699	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	N	722;696;265;699;686;696;686	ENSP00000260283:Y722N;ENSP00000349660:Y696N;ENSP00000437905:Y265N;ENSP00000432076:Y699N;ENSP00000436319:Y686N;ENSP00000436522:Y696N;ENSP00000431399:Y686N	ENSP00000260283:Y722N	Y	-	1	0	ARHGAP20	109956716	0.995000	0.38212	0.971000	0.41717	0.948000	0.59901	3.067000	0.50010	2.246000	0.74042	0.533000	0.62120	TAT		0.478	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		48	67	0	0	0	1	0	48	67				
CDC73	79577	broad.mit.edu	37	1	193111116	193111116	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:193111116G>C	ENST00000367435.3	+	7	833	c.649G>C	c.(649-651)Gag>Cag	p.E217Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	217	Interaction with CTNNB1.|Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGTGGATGCTGAGGTAGATGT	0.383																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(649-651)Gag>Cag		cell division cycle 73							88.0	80.0	82.0					1																	193111116		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111116G>C	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.649G>C	1.37:g.193111116G>C	ENSP00000356405:p.Glu217Gln						p.E217Q	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	833	+			217					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.649G>C	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778160	0.90195	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.85171	-1.95	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	L	0.51422	1.61	0.80722	D	1	D	0.62365	0.991	P	0.47981	0.563	D	0.83486	0.0067	10	0.30078	T	0.28	-23.0985	20.099	0.97865	0.0:0.0:1.0:0.0	.	217	Q6P1J9	CDC73_HUMAN	Q	217	ENSP00000356405:E217Q	ENSP00000356405:E217Q	E	+	1	0	CDC73	191377739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.623000	0.98386	2.752000	0.94435	0.655000	0.94253	GAG		0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		17	39	0	0	0	1	0	17	39				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	99	0	0	0	1	0	4	99				
CD1C	911	broad.mit.edu	37	1	158261128	158261128	+	Missense_Mutation	SNP	G	G	A	rs375747674		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:158261128G>A	ENST00000368170.3	+	2	545	c.266G>A	c.(265-267)cGt>cAt	p.R89H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TTGTTATTTCGTTTCTACCTC	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		20499	0.0		0.0	False		,,,				2504	0.001					ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(265-267)cGt>cAt		CD1c molecule		G	HIS/ARG	1,4405		0,1,2202	111.0	107.0	108.0		266	-2.8	0.0	1		108	0,8600		0,0,4300	no	missense	CD1C	NM_001765.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	89/334	158261128	1,13005	2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261128G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.266G>A	1.37:g.158261128G>A	ENSP00000357152:p.Arg89His						p.R89H	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			2	545	+	all_hematologic(112;0.0378)		89					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.266G>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	6.266	0.417223	0.11870	2.27E-4	0.0	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.07567	3.18	3.52	-2.83	0.05769	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.543957	0.14309	N	0.327809	T	0.01695	0.0054	L	0.33624	1.015	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.43556	-0.9384	10	0.32370	T	0.25	.	8.5496	0.33444	0.4912:0.0:0.5088:0.0	.	89	P29017	CD1C_HUMAN	H	89	ENSP00000357152:R89H	ENSP00000357151:R89H	R	+	2	0	CD1C	156527752	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.451000	0.01006	-0.594000	0.05836	0.650000	0.86243	CGT		0.398	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		35	60	0	0	0	1	0	35	60				
SIPA1L2	57568	broad.mit.edu	37	1	232650663	232650663	+	Silent	SNP	G	G	A	rs374772228	byFrequency	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:232650663G>A	ENST00000366630.1	-	2	781	c.423C>T	c.(421-423)atC>atT	p.I141I	SIPA1L2_ENST00000262861.4_Silent_p.I141I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	141					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGATGTCTCCGATTGTGTACT	0.488													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19922	0.0		0.0	False		,,,				2504	0.0					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(421-423)atC>atT		signal-induced proliferation-associated 1 like 2							143.0	140.0	141.0					1																	232650663		2023	4193	6216	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650663G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.423C>T	1.37:g.232650663G>A						SIPA1L2_ENST00000262861.4_Silent_p.I141I	p.I141I			Q9P2F8	SI1L2_HUMAN			2	781	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	141					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.423C>T	CCDS41474.1																																																																																				0.488	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		7	148	0	0	0	1	0	7	148				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(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.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.chr3:178936082G>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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	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)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			18	40	0	0	0	1	0	18	40				
POLR3D	661	broad.mit.edu	37	8	22107694	22107694	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:22107694A>G	ENST00000397802.4	+	7	1243	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R	POLR3D_ENST00000306433.4_Missense_Mutation_p.K343R			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	343					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTCTTGGGCAAGGTGACTCTG	0.557																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(1027-1029)aAg>aGg		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							85.0	76.0	79.0					8																	22107694		2203	4300	6503	SO:0001583	missense	661				innate immune response|positive regulation of 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	g.chr8:22107694A>G	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.1028A>G	8.37:g.22107694A>G	ENSP00000380904:p.Lys343Arg					POLR3D_ENST00000306433.4_Missense_Mutation_p.K343R	p.K343R			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	7	1243	+			343					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.1028A>G	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603945	0.46423	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.41	4.25	0.50352	.	0.141125	0.64402	N	0.000007	T	0.47619	0.1455	L	0.45581	1.43	0.37297	D	0.908508	B	0.12630	0.006	B	0.12156	0.007	T	0.46938	-0.9155	9	0.39692	T	0.17	-24.8854	8.3551	0.32324	0.8381:0.0:0.1619:0.0	.	343	P05423	RPC4_HUMAN	R	343	.	ENSP00000303088:K343R	K	+	2	0	POLR3D	22163639	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.591000	0.53986	0.879000	0.35944	0.459000	0.35465	AAG		0.557	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		23	39	0	0	0	1	0	23	39				
KIF24	347240	broad.mit.edu	37	9	34257664	34257664	+	Silent	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:34257664A>T	ENST00000402558.2	-	10	1965	c.1941T>A	c.(1939-1941)ccT>ccA	p.P647P	KIF24_ENST00000379174.3_Silent_p.P513P|KIF24_ENST00000379166.2_Silent_p.P647P|KIF24_ENST00000345050.2_Silent_p.P513P			Q5T7B8	KIF24_HUMAN	kinesin family member 24	647					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCCTTTCACAGGGCTAGCAT	0.493																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1939-1941)ccT>ccA		kinesin family member 24							56.0	52.0	53.0					9																	34257664		2203	4300	6503	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257664A>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1941T>A	9.37:g.34257664A>T						KIF24_ENST00000379174.3_Silent_p.P513P|KIF24_ENST00000402558.2_Silent_p.P647P|KIF24_ENST00000345050.2_Silent_p.P513P	p.P647P	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2060	-			647					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.1941T>A	CCDS6551.2																																																																																				0.493	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			3	48	0	0	0	1	0	3	48				
CEBPB	1051	broad.mit.edu	37	20	48807618	48807618	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:48807618G>A	ENST00000303004.3	+	1	243	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	16	Required for Lys-174 sumoylation.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|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)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CCCTGCCGCCGCCGCCGCCTG	0.736																																						ENST00000303004.3																			0				NS(1)|lung(1)	2						c.(46-48)ccG>ccA		CCAAT/enhancer binding protein (C/EBP), beta							6.0	8.0	7.0					20																	48807618		1696	3431	5127	SO:0001819	synonymous_variant	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807618G>A	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.48G>A	20.37:g.48807618G>A							p.P16P	NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	243	+			16			Required for Lys-174 sumoylation.		A8K671|Q96IH2|Q9H4Z5	Silent	SNP	ENST00000303004.3	37	c.48G>A	CCDS13429.1																																																																																				0.736	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		7	6	0	0	0	1	0	7	6				
MAGEA10	4109	broad.mit.edu	37	X	151303919	151303919	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrX:151303919G>A	ENST00000370323.4	-	4	490	c.174C>T	c.(172-174)tcC>tcT	p.S58S	MAGEA10_ENST00000244096.3_Silent_p.S58S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	58	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaagaggagg	0.552																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(172-174)tcC>tcT		melanoma antigen family A, 10							68.0	71.0	70.0					X																	151303919		2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303919G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.174C>T	X.37:g.151303919G>A						MAGEA10_ENST00000244096.3_Silent_p.S58S|RP11-1007I13.4_ENST00000509345.2_RNA	p.S58S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	490	-	Acute lymphoblastic leukemia(192;6.56e-05)		58			Poly-Ser.			Silent	SNP	ENST00000370323.4	37	c.174C>T	CCDS14705.1																																																																																				0.552	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		3	40	0	0	0	1	0	3	40				
DIDO1	11083	broad.mit.edu	37	20	61512748	61512748	+	Silent	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:61512748C>T	ENST00000266070.4	-	16	4885	c.4560G>A	c.(4558-4560)ttG>ttA	p.L1520L	DIDO1_ENST00000395343.1_Silent_p.L1520L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1520					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)					GTGGAGACATCAAGGCGTCCG	0.632																																					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.(4558-4560)ttG>ttA		death inducer-obliterator 1							85.0	85.0	85.0					20																	61512748		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512748C>T	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.4560G>A	20.37:g.61512748C>T						DIDO1_ENST00000395343.1_Silent_p.L1520L	p.L1520L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4885	-	Breast(26;5.68e-08)		1520					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4560G>A	CCDS33506.1																																																																																				0.632	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		28	55	0	0	0	1	0	28	55				
PCDH15	65217	broad.mit.edu	37	10	56077095	56077095	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:56077095A>T	ENST00000320301.6	-	8	1206	c.812T>A	c.(811-813)gTg>gAg	p.V271E	PCDH15_ENST00000373957.3_Missense_Mutation_p.V249E|PCDH15_ENST00000414778.1_Missense_Mutation_p.V276E|PCDH15_ENST00000395440.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373965.2_Missense_Mutation_p.V271E|PCDH15_ENST00000395446.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373955.1_Missense_Mutation_p.V271E|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395442.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395433.1_Missense_Mutation_p.V249E|PCDH15_ENST00000437009.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395432.2_Missense_Mutation_p.V234E|PCDH15_ENST00000395438.1_Missense_Mutation_p.V271E|PCDH15_ENST00000361849.3_Missense_Mutation_p.V271E|PCDH15_ENST00000395430.1_Missense_Mutation_p.V271E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	271					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)				AGTGTTTGGCACAAGGACACA	0.458										HNSCC(58;0.16)																												ENST00000373965.2																			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.(811-813)gTg>gAg		protocadherin-related 15							180.0	139.0	153.0					10																	56077095		2203	4300	6503	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.chr10:56077095A>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.812T>A	10.37:g.56077095A>T	ENSP00000322604:p.Val271Glu	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373955.1_Missense_Mutation_p.V271E|PCDH15_ENST00000373957.3_Missense_Mutation_p.V249E|PCDH15_ENST00000395438.1_Missense_Mutation_p.V271E|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V271E|PCDH15_ENST00000395440.1_Missense_Mutation_p.V271E|PCDH15_ENST00000320301.6_Missense_Mutation_p.V271E|PCDH15_ENST00000395442.1_Missense_Mutation_p.V271E|PCDH15_ENST00000361849.3_Missense_Mutation_p.V271E|PCDH15_ENST00000395445.1_Missense_Mutation_p.V271E|PCDH15_ENST00000437009.1_Missense_Mutation_p.V271E|PCDH15_ENST00000414778.1_Missense_Mutation_p.V276E|PCDH15_ENST00000395432.2_Missense_Mutation_p.V234E|PCDH15_ENST00000395433.1_Missense_Mutation_p.V249E	p.V271E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			8	1206	-		Melanoma(3;0.117)|Lung SC(717;0.238)	271					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.812T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682073	0.68042	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60797	0.37;0.41;0.33;0.34;0.39;0.66;0.53;0.16;0.21;0.27;0.27;0.22;0.21;0.31;0.42	4.77	4.77	0.60923	.	.	.	.	.	T	0.73521	0.3597	M	0.67953	2.075	0.48696	D	0.999692	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.991;0.993;0.986;0.998;0.991;0.997;0.998;0.999;0.991;0.999;0.999;1.0;0.998;0.993	T	0.77180	-0.2682	9	0.87932	D	0	.	14.2438	0.65975	1.0:0.0:0.0:0.0	.	249;271;271;276;271;234;271;271;271;271;271;276;271;249;271	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	271;276;271;271;271;271;271;271;234;271;249;249;271;271;276;271;271	ENSP00000363076:V271E;ENSP00000410304:V276E;ENSP00000378826:V271E;ENSP00000378832:V271E;ENSP00000378833:V271E;ENSP00000378829:V271E;ENSP00000378827:V271E;ENSP00000378820:V234E;ENSP00000354950:V271E;ENSP00000378821:V249E;ENSP00000363068:V249E;ENSP00000322604:V271E;ENSP00000378818:V271E;ENSP00000412628:V271E;ENSP00000363066:V271E	ENSP00000322604:V271E	V	-	2	0	PCDH15	55747101	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.150000	0.94667	1.901000	0.55032	0.455000	0.32223	GTG		0.458	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		45	76	0	0	0	1	0	45	76				
NHLRC2	374354	broad.mit.edu	37	10	115636278	115636278	+	Splice_Site	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:115636278A>T	ENST00000369301.3	+	3	543		c.e3-1			NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ttttCCTTTCAGATGGTCTTC	0.308																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e3-1		NHL repeat containing 2							41.0	43.0	42.0					10																	115636278		2203	4299	6502	SO:0001630	splice_region_variant	374354				cell redox homeostasis			g.chr10:115636278A>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.332-1A>T	10.37:g.115636278A>T								NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	3	543	+								Q8N1H1|Q8N5A6	Splice_Site	SNP	ENST00000369301.3	37		CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102604	0.76983	.	.	ENSG00000196865	ENST00000369301	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6611	0.68873	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NHLRC2	115626268	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.103000	0.94232	2.252000	0.74401	0.528000	0.53228	.		0.308	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514	Intron	20	36	0	0	0	1	0	20	36				
MYO3B	140469	broad.mit.edu	37	2	171056737	171056737	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:171056737T>A	ENST00000408978.4	+	3	407	c.264T>A	c.(262-264)taT>taA	p.Y88*	MYO3B_ENST00000334231.6_Nonsense_Mutation_p.Y97*|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.Y88*	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TAAAGTTTTATGGGATGTTTT	0.433																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(289-291)taT>taA		myosin IIIB							107.0	107.0	107.0					2																	171056737		1858	4101	5959	SO:0001587	stop_gained	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171056737T>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.264T>A	2.37:g.171056737T>A	ENSP00000386213:p.Tyr88*					MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.Y88*|MYO3B_ENST00000408978.4_Nonsense_Mutation_p.Y88*	p.Y97*			Q8WXR4	MYO3B_HUMAN			3	291	+			88			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Nonsense_Mutation	SNP	ENST00000408978.4	37	c.291T>A	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	5.979628|5.979628	0.97168|0.97168	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|.	.|.	.|.	5.39|5.39	1.75|1.75	0.24633|0.24633	.|.	.|0.177525	.|0.51477	.|D	.|0.000097	T|.	0.21631|.	0.0521|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39014|.	-0.9634|.	3|.	.|0.02654	.|T	.|1	.|.	9.1348|9.1348	0.36868|0.36868	0.0:0.2707:0.0:0.7293|0.0:0.2707:0.0:0.7293	.|.	.|.	.|.	.|.	R|X	88|88;88;87;97;97	.|.	.|ENSP00000314213:Y87X	W|Y	+|+	1|3	0|2	MYO3B|MYO3B	170764983|170764983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.885000|0.885000	0.28227|0.28227	0.119000|0.119000	0.18210|0.18210	0.460000|0.460000	0.39030|0.39030	TGG|TAT		0.433	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			15	27	0	0	0	1	0	15	27				
APC	324	broad.mit.edu	37	5	112151261	112151261	+	Nonsense_Mutation	SNP	C	C	T	rs137854568		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr5:112151261C>T	ENST00000457016.1	+	9	1284	c.904C>T	c.(904-906)Cga>Tga	p.R302*	APC_ENST00000508376.2_Nonsense_Mutation_p.R302*|APC_ENST00000257430.4_Nonsense_Mutation_p.R302*			P25054	APC_HUMAN	adenomatous polyposis coli	302	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R302*(13)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCTGCACCTCGAAGGCTGAC	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		13	Substitution - Nonsense(13)	p.R302*(13)	large_intestine(13)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM910029	APC	M	rs137854568	c.(904-906)Cga>Tga		adenomatous polyposis coli							113.0	100.0	104.0					5																	112151261		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112151261C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.904C>T	5.37:g.112151261C>T	ENSP00000413133:p.Arg302*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.R302*|APC_ENST00000508376.2_Nonsense_Mutation_p.R302*	p.R302*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	9	1284	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	302			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.904C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.654520	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5148	18.9031	0.92451	0.0:1.0:0.0:0.0	.	.	.	.	X	302;284;302;302;302	.	ENSP00000257430:R302X	R	+	1	2	APC	112179160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.567000	0.60850	2.520000	0.84964	0.650000	0.86243	CGA		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		33	26	0	0	0	1	0	33	26				
CNTNAP5	129684	broad.mit.edu	37	2	125671720	125671720	+	Missense_Mutation	SNP	C	C	T	rs115436587		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:125671720C>T	ENST00000431078.1	+	24	4140	c.3776C>T	c.(3775-3777)aCc>aTc	p.T1259I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1259					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCATCATGACCCGGTTCCTC	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18340	0.0		0.0	False		,,,				2504	0.0					ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3775-3777)aCc>aTc		contactin associated protein-like 5							177.0	167.0	170.0					2																	125671720		1967	4177	6144	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671720C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3776C>T	2.37:g.125671720C>T	ENSP00000399013:p.Thr1259Ile						p.T1259I	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4140	+			1259					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3776C>T	CCDS46401.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	3.212	-0.161338	0.06502	.	.	ENSG00000155052	ENST00000431078	T	0.33438	1.41	6.14	0.0771	0.14406	.	0.745568	0.11783	N	0.529957	T	0.14313	0.0346	N	0.13352	0.335	0.32279	N	0.567827	B	0.02656	0.0	B	0.01281	0.0	T	0.41305	-0.9516	10	0.11182	T	0.66	.	7.3041	0.26436	0.0:0.4106:0.3393:0.2501	.	1259	Q8WYK1	CNTP5_HUMAN	I	1259	ENSP00000399013:T1259I	ENSP00000399013:T1259I	T	+	2	0	CNTNAP5	125388190	0.996000	0.38824	0.861000	0.33841	0.978000	0.69477	0.328000	0.19681	-0.277000	0.09193	0.637000	0.83480	ACC		0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			10	103	0	0	0	1	0	10	103				
AGR3	155465	broad.mit.edu	37	7	16902255	16902255	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:16902255C>T	ENST00000310398.2	-	4	275	c.205G>A	c.(205-207)Gag>Aag	p.E69K	AGR3_ENST00000402239.3_Missense_Mutation_p.E69K	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	69						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TGACAATCCTCCAGGTGATGA	0.289																																						ENST00000310398.2																			0				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13						c.(205-207)Gag>Aag		anterior gradient 3							66.0	70.0	68.0					7																	16902255		2202	4296	6498	SO:0001583	missense	155465					extracellular region		g.chr7:16902255C>T	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"""Protein disulfide isomerases"""	24167	protein-coding gene	gene with protein product	"""breast cancer membrane protein 11"", ""protein disulfide isomerase family A, member 18"""	609482	"""anterior gradient 3 homolog (Xenopus laevis)"""			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.205G>A	7.37:g.16902255C>T	ENSP00000308606:p.Glu69Lys					AGR3_ENST00000402239.3_Missense_Mutation_p.E69K	p.E69K	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	4	275	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		69					A4D120	Missense_Mutation	SNP	ENST00000310398.2	37	c.205G>A	CCDS5365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.53|19.53	3.844165|3.844165	0.71488|0.71488	.|.	.|.	ENSG00000173467|ENSG00000173467	ENST00000310398;ENST00000402239|ENST00000414935	T;T|.	0.44083|.	0.93;0.93|.	4.36|4.36	4.36|4.36	0.52297|0.52297	Thioredoxin-like fold (2);|.	0.000000|.	0.56097|.	D|.	0.000023|.	T|T	0.78130|0.78130	0.4235|0.4235	M|M	0.83483|0.83483	2.645|2.645	0.47862|0.47862	D|D	0.999539|0.999539	P|.	0.41366|.	0.747|.	B|.	0.40477|.	0.33|.	T|T	0.81302|0.81302	-0.0994|-0.0994	10|5	0.26408|.	T|.	0.33|.	-8.5475|-8.5475	16.5031|16.5031	0.84262|0.84262	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69|.	Q8TD06|.	AGR3_HUMAN|.	K|E	69|47	ENSP00000308606:E69K;ENSP00000386016:E69K|.	ENSP00000308606:E69K|.	E|G	-|-	1|2	0|0	AGR3|AGR3	16868780|16868780	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.823000|0.823000	0.46562|0.46562	5.661000|5.661000	0.68025|0.68025	1.970000|1.970000	0.57323|0.57323	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.289	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2	NM_176813		108	106	0	0	0	1	0	108	106				
NEDD1	121441	broad.mit.edu	37	12	97330979	97330979	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:97330979A>G	ENST00000266742.4	+	9	1264	c.925A>G	c.(925-927)Agt>Ggt	p.S309G	NEDD1_ENST00000429527.2_Missense_Mutation_p.S309G|NEDD1_ENST00000411739.2_Missense_Mutation_p.S220G|NEDD1_ENST00000557644.1_Missense_Mutation_p.S316G|NEDD1_ENST00000457368.2_Missense_Mutation_p.S220G	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	309					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTTCAGTCAAGTTTAAATAA	0.303																																						ENST00000266742.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(925-927)Agt>Ggt		neural precursor cell expressed, developmentally down-regulated 1							41.0	39.0	40.0					12																	97330979		2203	4298	6501	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97330979A>G		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.925A>G	12.37:g.97330979A>G	ENSP00000266742:p.Ser309Gly					NEDD1_ENST00000411739.2_Missense_Mutation_p.S220G|NEDD1_ENST00000429527.2_Missense_Mutation_p.S309G|NEDD1_ENST00000557644.1_Missense_Mutation_p.S316G|NEDD1_ENST00000457368.2_Missense_Mutation_p.S220G	p.S309G	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN			9	1264	+			309					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.925A>G	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.871450	0.33069	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.51817	0.69;0.69;1.47;0.69;1.47	5.65	2.07	0.26955	.	0.451921	0.27986	N	0.017053	T	0.30355	0.0762	L	0.29908	0.895	0.28331	N	0.921798	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16158	-1.0412	10	0.25106	T	0.35	.	7.3646	0.26766	0.7364:0.0:0.2636:0.0	.	316;309	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	G	309;309;220;316;220	ENSP00000266742:S309G;ENSP00000404978:S309G;ENSP00000411307:S220G;ENSP00000451211:S316G;ENSP00000407964:S220G	ENSP00000266742:S309G	S	+	1	0	NEDD1	95855110	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	1.374000	0.34283	0.112000	0.17975	0.482000	0.46254	AGT		0.303	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			14	30	0	0	0	1	0	14	30				
ARHGAP25	9938	broad.mit.edu	37	2	69043372	69043372	+	Intron	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:69043372G>A	ENST00000295381.3	+	7	1223				ARHGAP25_ENST00000479844.1_5'Flank|ARHGAP25_ENST00000497079.1_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000544262.1_Silent_p.G272G|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000409220.1_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						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						TGGCACATGGGCAGGCTCATT	0.458																																						ENST00000544262.1																			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.(814-816)ggG>ggA		Rho GTPase activating protein 25							54.0	51.0	52.0					2																	69043372		2203	4300	6503	SO:0001627	intron_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69043372G>A	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.805-49G>A	2.37:g.69043372G>A						ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000497079.1_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409220.1_Intron	p.G272G			P42331	RHG25_HUMAN			7	1030	+			0			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.816G>A																																																																																					0.458	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		12	21	0	0	0	1	0	12	21				
CLEC4F	165530	broad.mit.edu	37	2	71044099	71044099	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr2:71044099G>A	ENST00000272367.2	-	4	490	c.414C>T	c.(412-414)ctC>ctT	p.L138L	CLEC4F_ENST00000426626.1_Silent_p.L138L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	138					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATGATCACCGAGCACCTGGA	0.453																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(412-414)ctC>ctT		C-type lectin domain family 4, member F							138.0	119.0	126.0					2																	71044099		2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71044099G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.414C>T	2.37:g.71044099G>A						CLEC4F_ENST00000426626.1_Silent_p.L138L	p.L138L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	490	-			138					A4QPA5	Silent	SNP	ENST00000272367.2	37	c.414C>T	CCDS1910.1																																																																																				0.453	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		4	112	0	0	0	1	0	4	112				
CROCC	9696	broad.mit.edu	37	1	17257025	17257025	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:17257025A>C	ENST00000375541.5	+	7	854	c.785A>C	c.(784-786)aAt>aCt	p.N262T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AAGGTGACCAATGACTGGACA	0.662																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(784-786)aAt>aCt		ciliary rootlet coiled-coil, rootletin							35.0	29.0	31.0					1																	17257025		2200	4299	6499	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17257025A>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.785A>C	1.37:g.17257025A>C	ENSP00000364691:p.Asn262Thr					CROCC_ENST00000467938.1_3'UTR	p.N262T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	7	854	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	262						Missense_Mutation	SNP	ENST00000375541.5	37	c.785A>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	1.197	-0.633728	0.03584	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10382	2.88	5.21	3.32	0.38043	.	.	.	.	.	T	0.05364	0.0142	N	0.11000	0.08	0.22226	N	0.999276	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44636	-0.9315	9	0.10902	T	0.67	.	8.9362	0.35702	0.0815:0.3975:0.521:0.0	.	125;262	A1L0S8;Q5TZA2	.;CROCC_HUMAN	T	262;143	ENSP00000364691:N262T	ENSP00000364691:N262T	N	+	2	0	CROCC	17129612	0.041000	0.20044	0.785000	0.31869	0.286000	0.27126	0.528000	0.23002	0.563000	0.29222	-0.253000	0.11424	AAT		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		14	27	0	0	0	1	0	14	27				
BMPR1B	658	broad.mit.edu	37	4	96052548	96052548	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:96052548A>C	ENST00000515059.1	+	10	1244	c.961A>C	c.(961-963)Agt>Cgt	p.S321R	BMPR1B_ENST00000440890.2_Missense_Mutation_p.S351R|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S321R|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S321R	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGAAATCTTTAGTACTCAAGG	0.418																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(961-963)Agt>Cgt		bone morphogenetic protein receptor, type IB							110.0	101.0	104.0					4																	96052548		2203	4300	6503	SO:0001583	missense	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96052548A>C	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.961A>C	4.37:g.96052548A>C	ENSP00000426617:p.Ser321Arg					BMPR1B_ENST00000394931.1_Missense_Mutation_p.S321R|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S351R|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S321R	p.S321R	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	10	1244	+		Hepatocellular(203;0.114)	321			Protein kinase.		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.961A>C	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084781	0.55861	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043164	0.85682	D	0.000000	D	0.87684	0.6239	L	0.28192	0.835	0.53688	D	0.999971	P	0.34955	0.477	B	0.32289	0.143	D	0.87568	0.2476	10	0.87932	D	0	.	10.8727	0.46894	0.9303:0.0:0.0697:0.0	.	321	O00238	BMR1B_HUMAN	R	321;321;321;351;321;321	ENSP00000426617:S321R;ENSP00000425444:S321R;ENSP00000421671:S321R;ENSP00000401907:S351R;ENSP00000264568:S321R;ENSP00000378389:S321R	ENSP00000264568:S321R	S	+	1	0	BMPR1B	96271571	1.000000	0.71417	0.961000	0.40146	0.786000	0.44442	7.255000	0.78338	2.324000	0.78689	0.533000	0.62120	AGT		0.418	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		40	47	0	0	0	1	0	40	47				
FZD4	8322	broad.mit.edu	37	11	86665903	86665903	+	Silent	SNP	G	G	C	rs377527854		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:86665903G>C	ENST00000531380.1	-	1	530	c.225C>G	c.(223-225)gcC>gcG	p.A75A	RP11-736K20.6_ENST00000499504.3_lincRNA	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	75	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTGCAGCTCGGCGTCCGTCT	0.667																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(223-225)gcC>gcG		frizzled family receptor 4							35.0	33.0	34.0					11																	86665903		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86665903G>C	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.225C>G	11.37:g.86665903G>C							p.A75A	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			1	530	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	75			FZ.		A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.225C>G	CCDS8279.1																																																																																				0.667	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		6	13	0	0	0	1	0	6	13				
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T	rs200673320		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493																																						ENST00000427390.2																			1	Substitution - coding silent(1)	p.T136T(1)	endometrium(1)	NS(3)|endometrium(4)|kidney(1)|skin(3)	11						c.(406-408)acG>acA		golgin A6 family-like 6							31.0	8.0	19.0					15																	20743796		336	402	738	SO:0001819	synonymous_variant	727832							g.chr15:20743796C>T	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.408G>A	15.37:g.20743796C>T							p.T136T	NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN			4	498	-			136					D3YTC0	Silent	SNP	ENST00000427390.2	37	c.408G>A	CCDS45184.1																																																																																				0.493	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004		4	27	0	0	0	1	0	4	27				
DNAH10	196385	broad.mit.edu	37	12	124403289	124403289	+	Missense_Mutation	SNP	C	C	T	rs200977125		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:124403289C>T	ENST00000409039.3	+	64	10970	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3649					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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGGCTACCGGCCAGCAGC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17681	0.001		0.0	False		,,,				2504	0.0					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(10945-10947)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	0,3828		0,0,1914	34.0	38.0	37.0		10945	4.9	1.0	12		37	1,8233		0,1,4116	no	missense	DNAH10	NM_207437.3	101	0,1,6030	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	3649/4472	124403289	1,12061	1914	4117	6031	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124403289C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10945C>T	12.37:g.124403289C>T	ENSP00000386770:p.Arg3649Trp						p.R3649W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	64	10970	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3649					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10945C>T	CCDS9255.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.4	4.289379	0.80914	0.0	1.21E-4	ENSG00000197653	ENST00000409039	T	0.55413	0.52	5.79	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.83399	0.5246	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.90395	0.4398	10	0.72032	D	0.01	.	14.9896	0.71377	0.2587:0.7413:0.0:0.0	.	3649	Q8IVF4	DYH10_HUMAN	W	3649	ENSP00000386770:R3649W	ENSP00000386770:R3649W	R	+	1	2	DNAH10	122969242	0.996000	0.38824	1.000000	0.80357	0.848000	0.48234	0.506000	0.22658	1.394000	0.46624	0.561000	0.74099	CGG		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			11	28	0	0	0	1	0	11	28				
RUNX1T1	862	broad.mit.edu	37	8	92988173	92988173	+	Silent	SNP	A	A	T			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:92988173A>T	ENST00000523629.1	-	10	1762	c.1308T>A	c.(1306-1308)ccT>ccA	p.P436P	GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000422361.2_Silent_p.P399P|RUNX1T1_ENST00000360348.2_Silent_p.P399P|RUNX1T1_ENST00000265814.3_Silent_p.P436P|RUNX1T1_ENST00000436581.2_Silent_p.P447P|RUNX1T1_ENST00000520724.1_Silent_p.P399P|RUNX1T1_ENST00000396218.1_Silent_p.P409P|RUNX1T1_ENST00000518844.1_Silent_p.P409P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	436					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATCCAGACGCAGGCCTGTGAA	0.488																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1306-1308)ccT>ccA		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							120.0	120.0	120.0					8																	92988173		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92988173A>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1308T>A	8.37:g.92988173A>T						RUNX1T1_ENST00000396218.1_Silent_p.P409P|RUNX1T1_ENST00000422361.2_Silent_p.P399P|RUNX1T1_ENST00000360348.2_Silent_p.P399P|RUNX1T1_ENST00000520724.1_Silent_p.P399P|RUNX1T1_ENST00000518844.1_Silent_p.P409P|RUNX1T1_ENST00000436581.2_Silent_p.P447P|RUNX1T1_ENST00000265814.3_Silent_p.P436P|GS1-5L10.1_ENST00000522980.1_RNA	p.P436P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		10	1762	-			436					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.1308T>A	CCDS6256.1																																																																																				0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		41	79	0	0	0	1	0	41	79				
CTCF	10664	broad.mit.edu	37	16	67662331	67662331	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr16:67662331G>A	ENST00000264010.4	+	9	2021	c.1577G>A	c.(1576-1578)aGc>aAc	p.S526N	CTCF_ENST00000401394.1_Missense_Mutation_p.S198N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	526					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TACGCCTGCAGCCACTGCGAT	0.572																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1576-1578)aGc>aAc		CCCTC-binding factor (zinc finger protein)							143.0	116.0	125.0					16																	67662331		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662331G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1577G>A	16.37:g.67662331G>A	ENSP00000264010:p.Ser526Asn					CTCF_ENST00000401394.1_Missense_Mutation_p.S198N	p.S526N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2021	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	526					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1577G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013696	0.75161	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.19250	2.16;2.16	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	N	0.17872	0.535	0.80722	D	1	D;P	0.67145	0.996;0.948	D;P	0.65323	0.934;0.75	T	0.03315	-1.1049	10	0.11182	T	0.66	-2.4665	19.488	0.95037	0.0:0.0:1.0:0.0	.	198;526	B5MC38;P49711	.;CTCF_HUMAN	N	526;198	ENSP00000264010:S526N;ENSP00000384707:S198N	ENSP00000264010:S526N	S	+	2	0	CTCF	66219832	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.614000	0.74197	2.702000	0.92279	0.462000	0.41574	AGC		0.572	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		4	73	0	0	0	1	0	4	73				
ZNF565	147929	broad.mit.edu	37	19	36673496	36673496	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr19:36673496G>A	ENST00000355114.5	-	5	2218	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ZNF565_ENST00000392173.2_Missense_Mutation_p.R458C|ZNF565_ENST00000304116.5_Missense_Mutation_p.R458C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGTGAACTACGAATAAAGGCC	0.433																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1492-1494)Cgt>Tgt		zinc finger protein 565							135.0	110.0	119.0					19																	36673496		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673496G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1492C>T	19.37:g.36673496G>A	ENSP00000347234:p.Arg498Cys					ZNF565_ENST00000304116.5_Missense_Mutation_p.R458C|ZNF565_ENST00000392173.2_Missense_Mutation_p.R458C	p.R498C			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	2218	-	Esophageal squamous(110;0.162)		458					B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.1492C>T		.	.	.	.	.	.	.	.	.	.	g	7.809	0.715208	0.15306	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.08102	3.13;3.13;3.13	4.81	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37809	N	0.001926	T	0.07188	0.0182	L	0.42008	1.315	0.09310	N	1	B	0.30664	0.289	B	0.17433	0.018	T	0.25950	-1.0117	10	0.37606	T	0.19	.	10.3854	0.44136	0.0:0.0:0.6435:0.3565	.	458	Q8N9K5	ZN565_HUMAN	C	458;458;498	ENSP00000376013:R458C;ENSP00000306869:R458C;ENSP00000347234:R498C	ENSP00000306869:R458C	R	-	1	0	ZNF565	41365336	0.000000	0.05858	0.918000	0.36340	0.005000	0.04900	-0.045000	0.12003	1.377000	0.46286	-0.187000	0.12897	CGT		0.433	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		4	107	0	0	0	1	0	4	107				
NAF1	92345	broad.mit.edu	37	4	164061475	164061475	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr4:164061475C>A	ENST00000274054.2	-	5	971	c.778G>T	c.(778-780)Gat>Tat	p.D260Y	NAF1_ENST00000509434.1_5'UTR|NAF1_ENST00000422287.2_Missense_Mutation_p.D260Y	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	260					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAATGTGATCTGAAGAATTA	0.294																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(778-780)Gat>Tat		nuclear assembly factor 1 ribonucleoprotein							84.0	91.0	89.0					4																	164061475		2203	4292	6495	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164061475C>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.778G>T	4.37:g.164061475C>A	ENSP00000274054:p.Asp260Tyr					NAF1_ENST00000422287.2_Missense_Mutation_p.D260Y|NAF1_ENST00000509434.1_5'UTR	p.D260Y	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			5	971	-	all_hematologic(180;0.166)	Prostate(90;0.109)	260					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.778G>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543608	0.86022	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.31510	1.49;1.49	5.68	5.68	0.88126	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.416529	0.27336	N	0.019825	T	0.38665	0.1049	N	0.17800	0.525	0.53688	D	0.999977	D;D	0.57571	0.975;0.98	P;P	0.58331	0.832;0.837	T	0.16188	-1.0411	10	0.49607	T	0.09	-5.9069	18.7805	0.91930	0.0:1.0:0.0:0.0	.	260;260	E9PAZ2;Q96HR8	.;NAF1_HUMAN	Y	260	ENSP00000408963:D260Y;ENSP00000274054:D260Y	ENSP00000274054:D260Y	D	-	1	0	NAF1	164280925	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.926000	0.56491	2.693000	0.91896	0.655000	0.94253	GAT		0.294	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		57	96	1	0	3.74213e-36	1	3.8323e-36	57	96				
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A	rs577866623		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000302124.2																			15	Substitution - coding silent(15)	p.A270A(15)	endometrium(15)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(808-810)gcG>gcA		olfactory receptor, family 8, subfamily I, member 2							87.0	85.0	86.0					11																	55861593		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861593G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.810G>A	11.37:g.55861593G>A						OR8I2_ENST00000560768.1_3'UTR	p.A270A			Q8N0Y5	OR8I2_HUMAN			1	841	+	Esophageal squamous(21;0.00693)		270					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.810G>A	CCDS31517.1																																																																																				0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		37	52	0	0	0	1	0	37	52				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	66	0	0	0	1	0	4	66				
PRKAG2	51422	broad.mit.edu	37	7	151273533	151273533	+	Silent	SNP	T	T	C			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:151273533T>C	ENST00000287878.4	-	7	1374	c.870A>G	c.(868-870)aaA>aaG	p.K290K	PRKAG2_ENST00000418337.2_Silent_p.K49K|PRKAG2_ENST00000392801.2_Silent_p.K246K|PRKAG2_ENST00000433631.2_Silent_p.K165K|PRKAG2_ENST00000492843.1_Silent_p.K166K	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	290	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				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)	AGAAGGCCTTTTTAACCTGAA	0.428																																						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.(868-870)aaA>aaG		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							54.0	56.0	55.0					7																	151273533		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:151273533T>C	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.870A>G	7.37:g.151273533T>C						PRKAG2_ENST00000492843.1_Silent_p.K166K|PRKAG2_ENST00000433631.2_Silent_p.K165K|PRKAG2_ENST00000392801.2_Silent_p.K246K|PRKAG2_ENST00000418337.2_Silent_p.K49K	p.K290K	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	7	1374	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	290			CBS 1.		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	c.870A>G	CCDS5928.1																																																																																				0.428	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		9	25	0	0	0	1	0	9	25				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	51	0	0	0	1	0	4	51				
GRIP1	23426	broad.mit.edu	37	12	66765526	66765526	+	Missense_Mutation	SNP	A	A	G	rs202244085		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr12:66765526A>G	ENST00000398016.3	-	22	2872	c.2804T>C	c.(2803-2805)aTg>aCg	p.M935T	GRIP1_ENST00000359742.4_Missense_Mutation_p.M987T|GRIP1_ENST00000286445.7_Missense_Mutation_p.M972T	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTCTTGTTTCATTTTTCTCAG	0.498																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2959-2961)aTg>aCg		glutamate receptor interacting protein 1							172.0	176.0	175.0					12																	66765526		1967	4155	6122	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66765526A>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2804T>C	12.37:g.66765526A>G	ENSP00000381098:p.Met935Thr					GRIP1_ENST00000286445.7_Missense_Mutation_p.M972T|GRIP1_ENST00000398016.3_Missense_Mutation_p.M935T	p.M987T			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	23	3200	-			987					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2960T>C	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.677|1.677	-0.507514|-0.507514	0.04231|0.04231	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211|ENST00000538164	T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03|.	6.13|6.13	5.0|5.0	0.66597|0.66597	PDZ/DHR/GLGF (1);|.	0.149536|.	0.64402|.	D|.	0.000001|.	T|.	0.57695|.	0.2071|.	L|L	0.43152|0.43152	1.355|1.355	0.40588|0.40588	D|D	0.981463|0.981463	B;B;B;B|.	0.28636|.	0.0;0.087;0.0;0.218|.	B;B;B;B|.	0.26094|.	0.004;0.03;0.004;0.066|.	T|.	0.55418|.	-0.8144|.	9|.	.|.	.|.	.|.	-17.3381|-17.3381	12.0882|12.0882	0.53710|0.53710	0.9338:0.0:0.0662:0.0|0.9338:0.0:0.0662:0.0	.|.	920;987;935;972|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	T|R	935;987;972;920|787	ENSP00000381098:M935T;ENSP00000352780:M987T;ENSP00000286445:M972T;ENSP00000446047:M920T|.	.|.	M|X	-|-	2|1	0|0	GRIP1|GRIP1	65051793|65051793	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.013000|0.013000	0.08279|0.08279	7.023000|7.023000	0.76437|0.76437	1.163000|1.163000	0.42636|0.42636	0.529000|0.529000	0.55759|0.55759	ATG|TGA		0.498	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			63	115	0	0	0	1	0	63	115				
UHRF2	115426	broad.mit.edu	37	9	6460608	6460608	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr9:6460608A>G	ENST00000276893.5	+	4	848	c.680A>G	c.(679-681)aAg>aGg	p.K227R		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	227	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGAATGTCAAGGATCTTAGA	0.363																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(679-681)aAg>aGg		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							91.0	92.0	91.0					9																	6460608		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6460608A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.680A>G	9.37:g.6460608A>G	ENSP00000276893:p.Lys227Arg						p.K227R	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	4	848	+		Acute lymphoblastic leukemia(23;0.158)	227			Interaction with PCNP.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.680A>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415983	0.25552	.	.	ENSG00000147854	ENST00000276893;ENST00000450508	D;T	0.85861	-2.04;0.81	5.74	3.41	0.39046	Domain of unknown function DUF3590 (1);	0.333020	0.32548	N	0.005951	T	0.69133	0.3077	N	0.26042	0.785	0.09310	N	1	B;B	0.17038	0.02;0.004	B;B	0.20384	0.029;0.02	T	0.48456	-0.9034	10	0.16896	T	0.51	-8.7245	0.9192	0.01311	0.4787:0.1538:0.2203:0.1473	.	4;227	B3KV82;Q96PU4	.;UHRF2_HUMAN	R	227;4	ENSP00000276893:K227R;ENSP00000399217:K4R	ENSP00000276893:K227R	K	+	2	0	UHRF2	6450608	0.028000	0.19301	0.997000	0.53966	0.986000	0.74619	0.331000	0.19733	0.992000	0.38840	0.482000	0.46254	AAG		0.363	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		33	59	0	0	0	1	0	33	59				
GRIK3	2899	broad.mit.edu	37	1	37499667	37499667	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr1:37499667A>G	ENST00000373091.3	-	1	59	c.43T>C	c.(43-45)Tac>Cac	p.Y15H	GRIK3_ENST00000373093.4_Missense_Mutation_p.Y15H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	15					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCGGCCCAGTATTCCCAAACC	0.741																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(43-45)Tac>Cac		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						10.0	12.0	11.0					1																	37499667		2167	4247	6414	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37499667A>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.43T>C	1.37:g.37499667A>G	ENSP00000362183:p.Tyr15His					GRIK3_ENST00000373093.4_Missense_Mutation_p.Y15H	p.Y15H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			1	59	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	15					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.43T>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	A	9.102	1.004353	0.19199	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11604	2.81;2.76	4.04	2.91	0.33838	.	0.000000	0.48767	D	0.000178	T	0.03564	0.0102	N	0.08118	0	0.34672	D	0.723821	P;P	0.42337	0.776;0.697	B;B	0.32465	0.135;0.146	T	0.48906	-0.8993	10	0.15499	T	0.54	.	6.5857	0.22620	0.8853:0.0:0.1147:0.0	.	15;15	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	15	ENSP00000362183:Y15H;ENSP00000362185:Y15H	ENSP00000362183:Y15H	Y	-	1	0	GRIK3	37272254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.196000	0.58407	0.463000	0.27118	0.329000	0.21502	TAC		0.741	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		8	13	0	0	0	1	0	8	13				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	84	0	0	0	1	0	5	84				
RCVRN	5957	broad.mit.edu	37	17	9801416	9801416	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr17:9801416G>A	ENST00000226193.5	-	3	1039	c.599C>T	c.(598-600)gCc>gTc	p.A200V	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	200					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						TTGGCATCAGGCGTTCTTCAT	0.512																																						ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(598-600)gCc>gTc		recoverin							324.0	272.0	290.0					17																	9801416		2203	4300	6503	SO:0001583	missense	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9801416G>A	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.599C>T	17.37:g.9801416G>A	ENSP00000226193:p.Ala200Val					RCVRN_ENST00000570909.2_Missense_Mutation_p.A69V	p.A200V	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			3	1039	-			200					Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	c.599C>T	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	G	8.811	0.935152	0.18206	.	.	ENSG00000109047	ENST00000226193	T	0.65178	-0.14	5.21	-2.56	0.06268	.	0.202993	0.41823	D	0.000808	T	0.35219	0.0924	N	0.08118	0	0.20703	N	0.999864	B	0.02656	0.0	B	0.01281	0.0	T	0.20840	-1.0263	10	0.87932	D	0	.	8.8275	0.35063	0.0776:0.0:0.2773:0.6451	.	200	P35243	RECO_HUMAN	V	200	ENSP00000226193:A200V	ENSP00000226193:A200V	A	-	2	0	RCVRN	9742141	0.261000	0.24063	0.143000	0.22291	0.255000	0.26057	-0.108000	0.10857	-0.601000	0.05783	0.655000	0.94253	GCC		0.512	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		56	115	0	0	0	1	0	56	115				
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-	rs376153797		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:5352528_5352530delGAG	ENST00000430969.1	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2664_2665SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						chromatin binding (GO:0003682)	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64																																						ENST00000399537.4																			3	Deletion - In frame(3)	p.S2671delS(2)|p.P1177delP(1)	prostate(3)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7990-7995)tct>tc		trinucleotide repeat containing 18				64,3888		3,58,1915						-4.8	0.9			7	110,7474		3,104,3685	no	coding	TNRC18	NM_001080495.2		6,162,5600	A1A1,A1R,RR		1.4504,1.6194,1.5083				174,11362				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352528_5352530delGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7992_7994delCTC	7.37:g.5352537_5352539delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del	p.SS2670del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8340_8342	-		Ovarian(82;0.142)	2670			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7992_7994delCTC	CCDS47534.1																																																																																				0.640	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	6						5	6	---	---	---	---
RP11-274B21.1	0	broad.mit.edu	37	7	128210234	128210235	+	RNA	INS	-	-	TT	rs577759783|rs57917869	byFrequency	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr7:128210234_128210235insTT	ENST00000605862.1	+	0	189																											agttttagttcttTTTTTTTTT	0.441																																						ENST00000605862.1																			0																																																			0							g.chr7:128210234_128210235insTT																													7.37:g.128210243_128210244dupTT														0	189	+									RNA	INS	ENST00000605862.1	37																																																																																						0.441	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468355.1			2	4						2	4	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135533215	135533215	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr8:135533215delC	ENST00000377838.3	-	13	3319	c.3145delG	c.(3145-3147)gtafs	p.V1049fs	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000520214.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000520356.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.V987fs	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1049					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGCCATATACAAAGCTGCAA	0.408																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3109-3111)tafs		zinc finger and AT hook domain containing							83.0	76.0	78.0					8																	135533215		1857	4106	5963	SO:0001589	frameshift_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135533215delC	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3145delG	8.37:g.135533215delC	ENSP00000367069:p.Val1049fs					ZFAT_ENST00000377838.3_Frame_Shift_Del_p.V1049fs|ZFAT_ENST00000520356.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000520214.1_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.V1037fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.V987fs	p.V1037fs	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3408	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1049					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Frame_Shift_Del	DEL	ENST00000377838.3	37	c.3109delG	CCDS47924.1																																																																																				0.408	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		11	25						11	25	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12070949	12070949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr10:12070949delG	ENST00000356352.2	-	2	1413	c.940delC	c.(940-942)catfs	p.H314fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.H314fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.H314fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	314	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTCCACAATGTCGACAGAAA	0.383																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(940-942)atfs		UPF2 regulator of nonsense transcripts homolog (yeast)							97.0	94.0	95.0					10																	12070949		2203	4300	6503	SO:0001589	frameshift_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12070949delG	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.940delC	10.37:g.12070949delG	ENSP00000348708:p.His314fs					UPF2_ENST00000357604.5_Frame_Shift_Del_p.H314fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.H314fs	p.H314fs			Q9HAU5	RENT2_HUMAN			2	1413	-		Renal(717;0.228)	314			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Del	DEL	ENST00000356352.2	37	c.940delC	CCDS7086.1																																																																																				0.383	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			33	66						33	66	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			3	3						3	3	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25299375	25299376	+	RNA	INS	-	-	A	rs376875248|rs537538276		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:25299375_25299376insA	ENST00000549804.2	+	0	98				RP11-701H24.10_ENST00000552781.1_RNA|SNORD116-1_ENST00000384335.1_RNA|SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GATGAGTCCCCAAAAAAAACAT	0.495																																						ENST00000549804.2																			0																	7,2327		1,5,1161						-3.2	0.0			186	17,4739		7,3,2368	no	intergenic				8,8,3529	A1A1,A1R,RR		0.3574,0.2999,0.3385				24,7066						0							g.chr15:25299375_25299376insA			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.25299383_25299383dupA						SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA								0	98	+									RNA	INS	ENST00000549804.2	37																																																																																						0.495	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			8	373						8	373	---	---	---	---
NR2F2-AS1	644192	broad.mit.edu	37	15	96824106	96824108	+	RNA	DEL	GAA	GAA	-	rs11855159|rs139238067		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr15:96824106_96824108delGAA	ENST00000502125.2	-	0	609				NR2F2-AS1_ENST00000561344.1_RNA|NR2F2-AS1_ENST00000557863.1_RNA|NR2F2-AS1_ENST00000560800.1_RNA|NR2F2-AS1_ENST00000561402.1_RNA|NR2F2-AS1_ENST00000558929.1_RNA					NR2F2 antisense RNA 1																		agaagaagaggaagaagaagaag	0.404																																						ENST00000502125.2																			0																																																			0							g.chr15:96824106_96824108delGAA	AK000872		15q26.2	2012-10-12	2012-08-15		ENSG00000247809	ENSG00000247809		"""Long non-coding RNAs"""	44222	non-coding RNA	RNA, long non-coding			"""NR2F2 antisense RNA 1 (non-protein coding)"""				Standard	NR_102743		Approved		uc002bto.2		OTTHUMG00000171855		15.37:g.96824115_96824117delGAA						NR2F2-AS1_ENST00000558929.1_RNA|NR2F2-AS1_ENST00000561402.1_RNA|NR2F2-AS1_ENST00000561344.1_RNA|NR2F2-AS1_ENST00000560800.1_RNA								0	609	-									RNA	DEL	ENST00000502125.2	37																																																																																						0.404	NR2F2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000415468.1	XR_109225		2	4						2	4	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T	rs536341837|rs371455437		TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371																																						ENST00000591761.1																			0																																																			0							g.chr20:21143813_21143814insT																													20.37:g.21143823_21143823dupT						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	INS	ENST00000591761.1	37																																																																																						0.371	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			7	76						7	76	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44941831	44941831	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAJ3-01A-11D-A41K-08	TCGA-XK-AAJ3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c5d3f-768a-4630-9cb3-6fbbacf5e964	efe07af2-72d9-48b9-885c-8e7ca3760457	g.chrX:44941831delA	ENST00000377967.4	+	21	3196	c.3155delA	c.(3154-3156)gaafs	p.E1052fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.E1007fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.E973fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.E1059fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1052	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.R1054fs*5(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAGAAAATGAAAAAAGAAGT	0.313			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		7	Whole gene deletion(6)|Insertion - Frameshift(1)	p.0?(6)|p.R1054fs*5(1)	oesophagus(2)|breast(2)|pancreas(2)|central_nervous_system(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3154-3156)gafs		lysine (K)-specific demethylase 6A							88.0	81.0	84.0					X																	44941831		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44941831delA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3155delA	X.37:g.44941831delA	ENSP00000367203:p.Glu1052fs					KDM6A_ENST00000536777.1_Frame_Shift_Del_p.E1007fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.E1059fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.E973fs	p.E1052fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			21	3196	+			1052					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.3155delA	CCDS14265.1																																																																																				0.313	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		58	27						58	27	---	---	---	---
