#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
ZNF479	90827	broad.mit.edu	37	7	57188621	57188621	+	Silent	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:57188621A>G	ENST00000331162.4	-	5	771	c.501T>C	c.(499-501)ggT>ggC	p.G167G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTGAAAATTTACCAAAGACTT	0.299																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(499-501)ggT>ggC		zinc finger protein 479							32.0	31.0	31.0					7																	57188621		1820	4079	5899	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188621A>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.501T>C	7.37:g.57188621A>G							p.G167G	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	771	-			167						Silent	SNP	ENST00000331162.4	37	c.501T>C	CCDS43590.1																																																																																				0.299	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		8	24	0	0	0	1	0	8	24				
FAM209B	388799	broad.mit.edu	37	20	55111330	55111330	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:55111330G>A	ENST00000371325.1	+	2	448	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	118						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TACCTTAAACGAACTTGAAGT	0.443																																						ENST00000371325.1																			0											c.(352-354)Gaa>Aaa		family with sequence similarity 209, member B							97.0	96.0	97.0					20																	55111330		2203	4300	6503	SO:0001583	missense	388799					integral to membrane		g.chr20:55111330G>A	AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.352G>A	20.37:g.55111330G>A	ENSP00000360376:p.Glu118Lys						p.E118K	NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN			2	448	+			118					Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	c.352G>A	CCDS33494.1	.	.	.	.	.	.	.	.	.	.	G	5.262	0.233769	0.09969	.	.	ENSG00000213714	ENST00000371325	T	0.08282	3.11	3.35	2.38	0.29361	.	0.154134	0.29876	U	0.010975	T	0.06416	0.0165	L	0.36672	1.1	0.21386	N	0.999707	B	0.28760	0.221	B	0.19666	0.026	T	0.30031	-0.9992	10	0.42905	T	0.14	-12.6386	8.6415	0.33981	0.0:0.7579:0.242:0.0	.	118	Q5JX69	CT107_HUMAN	K	118	ENSP00000360376:E118K	ENSP00000360376:E118K	E	+	1	0	C20orf107	54544737	0.074000	0.21230	0.212000	0.23672	0.003000	0.03518	1.005000	0.29834	0.747000	0.32809	-0.280000	0.10049	GAA		0.443	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			20	80	0	0	0	1	0	20	80				
MOCS1	4337	broad.mit.edu	37	6	39874633	39874633	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:39874633C>A	ENST00000340692.5	-	11	1414	c.1411G>T	c.(1411-1413)Gcc>Tcc	p.A471S	MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.A368S|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000308559.7_Missense_Mutation_p.A455S|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.A471S			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	471	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTGAGGGGGCAGCAGAAGCC	0.582																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1363-1365)Gcc>Tcc		molybdenum cofactor synthesis 1							57.0	58.0	58.0					6																	39874633		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874633C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1411G>T	6.37:g.39874633C>A	ENSP00000344794:p.Ala471Ser					MOCS1_ENST00000373195.3_Missense_Mutation_p.A368S|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.A471S|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.A471S	p.A455S			Q9NZB8	MOCS1_HUMAN			10	1496	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		471			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.1363G>T		.	.	.	.	.	.	.	.	.	.	C	0.017	-1.491841	0.01009	.	.	ENSG00000124615	ENST00000308559;ENST00000373195;ENST00000340692;ENST00000425303	T;T;T;T	0.30182	1.54;1.54;1.59;1.58	5.21	-2.82	0.05787	.	0.989301	0.08238	N	0.976494	T	0.04543	0.0124	.	.	.	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.12837	0.003;0.002;0.008	T	0.44787	-0.9305	9	0.09084	T	0.74	-7.8101	11.2793	0.49184	0.0:0.6249:0.0:0.3751	.	455;471;471	Q9NZB8-2;Q9NZB8;Q9NZB8-8	.;MOCS1_HUMAN;.	S	455;368;471;471	ENSP00000309843:A455S;ENSP00000362291:A368S;ENSP00000344794:A471S;ENSP00000416478:A471S	ENSP00000309843:A455S	A	-	1	0	MOCS1	39982611	0.000000	0.05858	0.074000	0.20217	0.027000	0.11550	-0.442000	0.06871	-0.260000	0.09418	-0.471000	0.05019	GCC		0.582	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		28	80	1	0	7.26314e-15	1	8.15511e-15	28	80				
LRRC16B	90668	broad.mit.edu	37	14	24529927	24529927	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:24529927G>A	ENST00000342740.5	+	25	2306	c.2152G>A	c.(2152-2154)Gct>Act	p.A718T	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	718						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCTACTCTACGCTCGGGACCT	0.622																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2152-2154)Gct>Act		leucine rich repeat containing 16B							48.0	51.0	50.0					14																	24529927		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24529927G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2152G>A	14.37:g.24529927G>A	ENSP00000340467:p.Ala718Thr					LRRC16B_ENST00000334420.7_5'UTR	p.A718T	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	25	2306	+			718					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2152G>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543908	0.86022	.	.	ENSG00000186648	ENST00000342740	T	0.38560	1.13	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.63382	-0.6650	10	0.72032	D	0.01	-18.5537	16.4056	0.83669	0.0:0.0:1.0:0.0	.	718	Q8ND23	LR16B_HUMAN	T	718	ENSP00000340467:A718T	ENSP00000340467:A718T	A	+	1	0	LRRC16B	23599767	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	8.824000	0.92023	2.815000	0.96918	0.561000	0.74099	GCT		0.622	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		8	20	0	0	0	1	0	8	20				
RBM28	55131	broad.mit.edu	37	7	127953234	127953234	+	Silent	SNP	G	G	A	rs202000898		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:127953234G>A	ENST00000223073.2	-	18	2253	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Silent_p.S572S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	713					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCACCTGCTCGGACGATAATT	0.473																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(2137-2139)tcC>tcT		RNA binding motif protein 28		G	,	1,4405	2.1+/-5.4	0,1,2202	276.0	231.0	246.0		1716,2139	-0.4	0.1	7		246	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RBM28	NM_001166135.1,NM_018077.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	572/619,713/760	127953234	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127953234G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2139C>T	7.37:g.127953234G>A						RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Silent_p.S572S	p.S713S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			18	2253	-			713					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	c.2139C>T	CCDS5801.1																																																																																				0.473	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		4	154	0	0	0	1	0	4	154				
CHAF1B	8208	broad.mit.edu	37	21	37781744	37781744	+	Silent	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr21:37781744G>T	ENST00000314103.5	+	10	1051	c.900G>T	c.(898-900)ctG>ctT	p.L300L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	300					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						ACTTTGAACTGAGGCCAGTGG	0.498																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(898-900)ctG>ctT		chromatin assembly factor 1, subunit B (p60)							218.0	202.0	208.0					21																	37781744		2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37781744G>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.900G>T	21.37:g.37781744G>T							p.L300L	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			10	1051	+			300					Q99548	Silent	SNP	ENST00000314103.5	37	c.900G>T	CCDS13644.1																																																																																				0.498	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		70	139	1	0	1.52378e-38	1	1.81718e-38	70	139				
METTL10	399818	broad.mit.edu	37	10	126448978	126448978	+	3'UTR	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:126448978T>C	ENST00000368836.2	-	0	1006				RP11-12J10.3_ENST00000494792.1_Missense_Mutation_p.202_202insG	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10								methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		AGAAAAAGTCTCACATTTTTT	0.403																																						ENST00000494792.1																			0											c.(604-606)gAg>gGg									122.0	105.0	110.0					10																	126448978		692	1591	2283	SO:0001624	3_prime_UTR_variant	399818							g.chr10:126448978T>C		CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 138"""	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.*94A>G	10.37:g.126448978T>C						METTL10_ENST00000368836.2_3'UTR	p.202_202insG							6	604	-								A8MPY7	Missense_Mutation	SNP	ENST00000368836.2	37	c.605A>G	CCDS31307.1																																																																																				0.403	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050884.1	NM_212554		19	15	0	0	0	1	0	19	15				
OR5I1	10798	broad.mit.edu	37	11	55702954	55702954	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:55702954C>A	ENST00000301532.3	-	1	922	c.923G>T	c.(922-924)aGa>aTa	p.R308I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	308					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TACCTTTGATCTTAGAACTTT	0.343																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(922-924)aGa>aTa		olfactory receptor, family 5, subfamily I, member 1							63.0	61.0	62.0					11																	55702954		2200	4294	6494	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55702954C>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.923G>T	11.37:g.55702954C>A	ENSP00000301532:p.Arg308Ile						p.R308I	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	922	-			308					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.923G>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630887	0.28978	.	.	ENSG00000167825	ENST00000301532	T	0.38722	1.12	4.96	-4.27	0.03744	.	0.926527	0.09046	N	0.856501	T	0.28928	0.0718	L	0.42581	1.335	0.09310	N	0.999996	B	0.20671	0.047	B	0.16289	0.015	T	0.25328	-1.0135	10	0.36615	T	0.2	.	6.8604	0.24064	0.1173:0.3545:0.0:0.5283	.	308	Q13606	OR5I1_HUMAN	I	308	ENSP00000301532:R308I	ENSP00000301532:R308I	R	-	2	0	OR5I1	55459530	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-2.223000	0.01214	-0.723000	0.04915	0.643000	0.83706	AGA		0.343	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		7	20	1	0	5.18039e-06	1	5.3475e-06	7	20				
EIF1AX	1964	broad.mit.edu	37	X	20156731	20156731	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	EIF1AX_ENST00000379593.1_Intron|snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt		eukaryotic translation initiation factor 1A, X-linked							143.0	133.0	136.0					X																	20156731		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp					EIF1AX_ENST00000379593.1_Intron	p.G9D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	229	-			9					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.26G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618536	0.66787	.	.	ENSG00000173674	ENST00000379607	T	0.48201	0.82	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79021	0.4376	H	0.96301	3.8	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.86715	0.1938	9	0.87932	D	0	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	D	9	ENSP00000368927:G9D	ENSP00000368927:G9D	G	-	2	0	EIF1AX	20066652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			36	9	0	0	0	1	0	36	9				
MICAL3	57553	broad.mit.edu	37	22	18368670	18368670	+	Missense_Mutation	SNP	C	C	T	rs369243644		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr22:18368670C>T	ENST00000441493.2	-	16	2567	c.2215G>A	c.(2215-2217)Gca>Aca	p.A739T	MICAL3_ENST00000429452.1_Missense_Mutation_p.A739T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A739T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A739T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A739T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A739T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A739T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A739T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	739					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATGGACTGTGCGGGCGCATTC	0.542																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2215-2217)Gca>Aca		microtubule associated monooxygenase, calponin and LIM domain containing 3		C	THR/ALA,THR/ALA,THR/ALA	0,3136		0,0,1568	162.0	147.0	152.0		2215,2215,2215	1.5	0.0	22		152	1,7163		0,1,3581	no	missense,missense,missense	MICAL3	NM_001122731.1,NM_001136004.1,NM_015241.2	58,58,58	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	benign,benign,benign	739/967,739/1074,739/2003	18368670	1,10299	1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18368670C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2215G>A	22.37:g.18368670C>T	ENSP00000416015:p.Ala739Thr					MICAL3_ENST00000400561.2_Missense_Mutation_p.A739T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A739T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A739T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A739T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A739T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A739T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A739T	p.A739T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	16	2567	-		all_epithelial(15;0.198)	739					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.2215G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	1.639	-0.516869	0.04200	0.0	1.4E-4	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.67345	0.05;-0.26;-0.05;-0.05;-0.04;-0.05;-0.04	5.93	1.46	0.22682	.	0.852818	0.10811	N	0.631588	T	0.49184	0.1542	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.14012	0.002;0.001;0.0;0.0;0.009	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.17837	-1.0356	10	0.13853	T	0.58	.	14.6876	0.69059	0.0:0.5601:0.3605:0.0794	.	739;739;739;739;739	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	T	739	ENSP00000416015:A739T;ENSP00000414846:A739T;ENSP00000383406:A739T;ENSP00000410315:A739T;ENSP00000391827:A739T;ENSP00000372574:A739T;ENSP00000207726:A739T	ENSP00000207726:A739T	A	-	1	0	XXbac-B461K10.4;MICAL3	16748670	0.013000	0.17824	0.009000	0.14445	0.008000	0.06430	0.289000	0.18957	0.122000	0.18314	-0.215000	0.12644	GCA		0.542	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	139	0	0	0	1	0	4	139				
AOX1	316	broad.mit.edu	37	2	201499611	201499611	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:201499611G>A	ENST00000374700.2	+	21	2560	c.2319G>A	c.(2317-2319)gtG>gtA	p.V773V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	773					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGTCTACGTGTCCACACAGT	0.418																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(2317-2319)gtG>gtA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						119.0	117.0	118.0					2																	201499611		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201499611G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2319G>A	2.37:g.201499611G>A						AOX1_ENST00000485106.1_3'UTR	p.V773V	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			21	2560	+			773					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.2319G>A	CCDS33360.1																																																																																				0.418	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		20	70	0	0	0	1	0	20	70				
SLC24A4	123041	broad.mit.edu	37	14	92920295	92920295	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:92920295T>A	ENST00000532405.1	+	11	1158	c.932T>A	c.(931-933)aTt>aAt	p.I311N	SLC24A4_ENST00000351924.5_Missense_Mutation_p.I275N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.I294N|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Missense_Mutation_p.I247N|SLC24A4_ENST00000531433.1_Missense_Mutation_p.I292N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	311					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTGGACGAGATTATGAGCTCC	0.532																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(931-933)aTt>aAt		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							200.0	150.0	167.0					14																	92920295		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92920295T>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.932T>A	14.37:g.92920295T>A	ENSP00000431840:p.Ile311Asn					SLC24A4_ENST00000531433.1_Missense_Mutation_p.I292N|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Missense_Mutation_p.I247N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.I275N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.I294N	p.I311N			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	11	1158	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	311					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.932T>A	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.49|17.49	3.402074|3.402074	0.62288|0.62288	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000525557|ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	.|T;T;T;T;T	.|0.69306	.|-0.37;0.04;0.04;-0.38;-0.39	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.203604	.|0.52532	.|D	.|0.000078	T|T	0.67230|0.67230	0.2871|0.2871	M|M	0.61703|0.61703	1.905|1.905	0.51233|0.51233	D|D	0.999915|0.999915	.|B;B;P	.|0.35944	.|0.348;0.348;0.529	.|B;B;B	.|0.42030	.|0.373;0.373;0.304	T|T	0.63686|0.63686	-0.6581|-0.6581	5|10	.|0.16896	.|T	.|0.51	.|.	15.1889|15.1889	0.73028|0.73028	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|292;247;311	.|Q8NFF2-3;Q8NFF2-2;Q8NFF2	.|.;.;NCKX4_HUMAN	E|N	176|247;292;311;294;275;163	.|ENSP00000376948:I247N;ENSP00000433302:I292N;ENSP00000431840:I311N;ENSP00000298877:I294N;ENSP00000337789:I275N	.|ENSP00000298877:I294N	D|I	+|+	3|2	2|0	SLC24A4|SLC24A4	91990048|91990048	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.694000|0.694000	0.40290|0.40290	7.946000|7.946000	0.87746|0.87746	1.988000|1.988000	0.58038|0.58038	0.402000|0.402000	0.26972|0.26972	GAT|ATT		0.532	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		10	62	0	0	0	1	0	10	62				
CCDC66	285331	broad.mit.edu	37	3	56649288	56649288	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:56649288A>T	ENST00000394672.3	+	12	1769	c.1699A>T	c.(1699-1701)Aaa>Taa	p.K567*	CCDC66_ENST00000436465.2_Nonsense_Mutation_p.K567*|CCDC66_ENST00000326595.7_Nonsense_Mutation_p.K533*	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	567					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TAGACTGATTAAAAATCTTGG	0.368																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1699-1701)Aaa>Taa		coiled-coil domain containing 66							83.0	85.0	85.0					3																	56649288		2203	4300	6503	SO:0001587	stop_gained	285331							g.chr3:56649288A>T	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1699A>T	3.37:g.56649288A>T	ENSP00000378167:p.Lys567*					CCDC66_ENST00000326595.7_Nonsense_Mutation_p.K533*|CCDC66_ENST00000436465.2_Nonsense_Mutation_p.K567*	p.K567*	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	12	1769	+			567					B3KWL8|Q4VC34|Q8N949	Nonsense_Mutation	SNP	ENST00000394672.3	37	c.1699A>T	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	36	5.777654	0.96929	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	.	.	.	5.97	1.91	0.25777	.	0.557522	0.18644	N	0.135188	.	.	.	.	.	.	0.43536	D	0.995828	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2051	13.7347	0.62811	0.6089:0.3911:0.0:0.0	.	.	.	.	X	523;567;533;567	.	ENSP00000326050:K533X	K	+	1	0	CCDC66	56624328	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	2.484000	0.45242	0.477000	0.27464	0.459000	0.35465	AAA		0.368	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		25	32	0	0	0	1	0	25	32				
CIR1	9541	broad.mit.edu	37	2	175213705	175213705	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:175213705C>G	ENST00000342016.3	-	10	965	c.873G>C	c.(871-873)agG>agC	p.R291S	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	291	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ttcttttcttcctttgtattt	0.383																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(871-873)agG>agC		corepressor interacting with RBPJ, 1							87.0	87.0	87.0					2																	175213705		2202	4300	6502	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213705C>G	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.873G>C	2.37:g.175213705C>G	ENSP00000339723:p.Arg291Ser					CIR1_ENST00000362053.5_3'UTR	p.R291S	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	965	-			291			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.873G>C	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261882	0.10239	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.16	5.27	0.74061	.	0.197469	0.40554	N	0.001061	T	0.39784	0.1091	N	0.17082	0.46	0.47994	D	0.99956	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.24870	-1.0148	9	0.10377	T	0.69	.	14.7475	0.69499	0.1449:0.8551:0.0:0.0	.	291;291	A0PJI7;Q86X95	.;CIR1_HUMAN	S	291	.	ENSP00000339723:R291S	R	-	3	2	CIR1	174921951	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	2.277000	0.43417	1.578000	0.49821	0.650000	0.86243	AGG		0.383	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		21	59	0	0	0	1	0	21	59				
AHCTF1	25909	broad.mit.edu	37	1	247053320	247053320	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:247053320C>A	ENST00000391829.2	-	17	2215	c.2092G>T	c.(2092-2094)Gta>Tta	p.V698L	AHCTF1_ENST00000366508.1_Missense_Mutation_p.V733L|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.V707L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	698	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTGAATTACAGGGTAGTTG	0.338																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(2197-2199)Gta>Tta		AT hook containing transcription factor 1							127.0	135.0	132.0					1																	247053320		2203	4298	6501	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247053320C>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2092G>T	1.37:g.247053320C>A	ENSP00000375705:p.Val698Leu					AHCTF1_ENST00000391829.2_Missense_Mutation_p.V698L|AHCTF1_ENST00000326225.3_Missense_Mutation_p.V707L|AHCTF1_ENST00000470300.1_5'UTR	p.V733L			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		17	2333	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	698			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.2197G>T		.	.	.	.	.	.	.	.	.	.	C	4.627	0.116483	0.08881	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.30182	1.54;1.55;1.55	5.61	4.7	0.59300	.	0.150900	0.42821	D	0.000648	T	0.23370	0.0565	L	0.36672	1.1	0.28520	N	0.913107	B;B	0.12630	0.006;0.005	B;B	0.10450	0.005;0.005	T	0.12167	-1.0558	10	0.27785	T	0.31	-6.2466	10.4315	0.44411	0.0:0.7507:0.1722:0.077	.	733;698	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	L	733;707;698	ENSP00000355464:V733L;ENSP00000355465:V707L;ENSP00000375705:V698L	ENSP00000355465:V707L	V	-	1	0	AHCTF1	245119943	1.000000	0.71417	0.979000	0.43373	0.028000	0.11728	2.964000	0.49192	1.379000	0.46325	0.579000	0.79373	GTA		0.338	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		35	96	1	0	7.91308e-09	1	8.34786e-09	35	96				
ANKRD11	29123	broad.mit.edu	37	16	89348160	89348160	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:89348160C>T	ENST00000301030.4	-	9	5250	c.4790G>A	c.(4789-4791)cGc>cAc	p.R1597H	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1597H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1597	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGCTTGTGGCGCTCCTCGAT	0.622																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4789-4791)cGc>cAc		ankyrin repeat domain 11							84.0	81.0	82.0					16																	89348160		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348160C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4790G>A	16.37:g.89348160C>T	ENSP00000301030:p.Arg1597His					ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1597H	p.R1597H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5250	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1597			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4790G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550546	0.86127	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.47869	0.83;0.83	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.56001	-0.8051	10	0.36615	T	0.2	.	18.0532	0.89356	0.0:1.0:0.0:0.0	.	1597	Q6UB99	ANR11_HUMAN	H	1597	ENSP00000301030:R1597H;ENSP00000367581:R1597H	ENSP00000301030:R1597H	R	-	2	0	ANKRD11	87875661	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.239000	0.78182	2.353000	0.79882	0.462000	0.41574	CGC		0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		4	135	0	0	0	1	0	4	135				
TNFSF15	9966	broad.mit.edu	37	9	117552979	117552979	+	Missense_Mutation	SNP	C	C	T	rs144487361		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:117552979C>T	ENST00000374045.4	-	4	622	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	TNFSF15_ENST00000374044.1_Missense_Mutation_p.R93Q|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	170					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTTGTTTGGTCGGCCTGCTTG	0.522																																						ENST00000374045.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(508-510)cGa>cAa		tumor necrosis factor (ligand) superfamily, member 15		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	214.0	172.0	187.0		332,509	-8.7	0.0	9	dbSNP_134	187	0,8600		0,0,4300	no	missense,missense	TNFSF15	NM_001204344.1,NM_005118.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	111/193,170/252	117552979	1,13005	2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117552979C>T	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.509G>A	9.37:g.117552979C>T	ENSP00000363157:p.Arg170Gln					TNFSF15_ENST00000374044.1_Missense_Mutation_p.R93Q	p.R170Q	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN			4	622	-			170					Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.509G>A	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649845	0.14516	2.27E-4	0.0	ENSG00000181634	ENST00000374045;ENST00000374044	T;T	0.34859	1.92;1.34	5.93	-8.7	0.00851	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.289890	0.05109	N	0.488505	T	0.26955	0.0660	M	0.68593	2.085	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.19257	-1.0311	10	0.12430	T	0.62	-24.5307	5.4826	0.16731	0.1077:0.5088:0.1533:0.2302	.	170;111	O95150;O95150-2	TNF15_HUMAN;.	Q	170;93	ENSP00000363157:R170Q;ENSP00000363156:R93Q	ENSP00000363156:R93Q	R	-	2	0	TNFSF15	116592800	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.127000	0.03251	-1.539000	0.01732	-0.812000	0.03155	CGA		0.522	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		3	33	0	0	0	1	0	3	33				
SCAF4	57466	broad.mit.edu	37	21	33044516	33044516	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr21:33044516G>A	ENST00000286835.7	-	20	3022	c.2640C>T	c.(2638-2640)ccC>ccT	p.P880P	SCAF4_ENST00000434667.3_Silent_p.P865P|SCAF4_ENST00000399804.1_Silent_p.P858P	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	880						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCGGTGGCATGGGACGGGGCG	0.652																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2638-2640)ccC>ccT		SR-related CTD-associated factor 4							66.0	65.0	65.0					21																	33044516		2203	4300	6503	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044516G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2640C>T	21.37:g.33044516G>A						SCAF4_ENST00000434667.3_Silent_p.P865P|SCAF4_ENST00000399804.1_Silent_p.P858P	p.P880P	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3022	-			880					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.2640C>T	CCDS33537.1																																																																																				0.652	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		29	56	0	0	0	1	0	29	56				
TG	7038	broad.mit.edu	37	8	133900553	133900553	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:133900553C>T	ENST00000220616.4	+	10	2541	c.2501C>T	c.(2500-2502)cCg>cTg	p.P834L	TG_ENST00000377869.1_Missense_Mutation_p.P834L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	834	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATGTCTTCCCGGTGCTGTCA	0.522																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2500-2502)cCg>cTg		thyroglobulin							78.0	77.0	77.0					8																	133900553		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900553C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2501C>T	8.37:g.133900553C>T	ENSP00000220616:p.Pro834Leu					TG_ENST00000377869.1_Missense_Mutation_p.P834L	p.P834L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2541	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	834			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2501C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638708	0.87760	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.77358	-1.09;-1.0	5.8	5.8	0.92144	Thyroglobulin type-1 (2);	0.088643	0.49916	D	0.000133	D	0.87966	0.6311	M	0.72894	2.215	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	D	0.88257	0.2920	10	0.72032	D	0.01	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	834	P01266	THYG_HUMAN	L	834	ENSP00000367100:P834L;ENSP00000220616:P834L	ENSP00000220616:P834L	P	+	2	0	TG	133969735	1.000000	0.71417	0.991000	0.47740	0.871000	0.50021	6.197000	0.72100	2.740000	0.93945	0.650000	0.86243	CCG		0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		34	54	0	0	0	1	0	34	54				
ACTR6	64431	broad.mit.edu	37	12	100601474	100601474	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:100601474G>A	ENST00000188312.2	+	4	1054	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	ACTR6_ENST00000551617.1_Missense_Mutation_p.E15K|ACTR6_ENST00000546902.1_Missense_Mutation_p.E15K|ACTR6_ENST00000552376.1_Missense_Mutation_p.E97K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	97						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TATTATCACTGAACCATACTT	0.259																																						ENST00000188312.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(289-291)Gaa>Aaa		ARP6 actin-related protein 6 homolog (yeast)							42.0	46.0	45.0					12																	100601474		2193	4281	6474	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100601474G>A	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.289G>A	12.37:g.100601474G>A	ENSP00000188312:p.Glu97Lys					ACTR6_ENST00000551617.1_Missense_Mutation_p.E15K|ACTR6_ENST00000552376.1_Missense_Mutation_p.E97K|ACTR6_ENST00000546902.1_Missense_Mutation_p.E15K	p.E97K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN			4	1054	+			97					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.289G>A	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512914	0.96402	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	D;D;D;D	0.74674	0.976;0.981;0.973;0.984	D	0.99327	1.0908	10	0.87932	D	0	.	19.8737	0.96861	0.0:0.0:1.0:0.0	.	97;15;97;97	B4DLG9;F8VSD1;F8W057;Q9GZN1	.;.;.;ARP6_HUMAN	K	109;97;15;97;15	ENSP00000448508:E109K;ENSP00000188312:E97K;ENSP00000448669:E15K;ENSP00000447237:E97K;ENSP00000448356:E15K	ENSP00000188312:E97K	E	+	1	0	ACTR6	99125605	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.296000	0.96104	2.693000	0.91896	0.650000	0.86243	GAA		0.259	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		12	20	0	0	0	1	0	12	20				
NAP1L2	4674	broad.mit.edu	37	X	72432954	72432954	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:72432954C>A	ENST00000373517.3	-	1	1730	c.1375G>T	c.(1375-1377)Gat>Tat	p.D459Y	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D317Y	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	459					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCTAACGATCAATGTCTTCT	0.348																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(1375-1377)Gat>Tat		nucleosome assembly protein 1-like 2							53.0	44.0	47.0					X																	72432954		2203	4299	6502	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72432954C>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1375G>T	X.37:g.72432954C>A	ENSP00000362616:p.Asp459Tyr					NAP1L2_ENST00000536638.1_Missense_Mutation_p.D317Y	p.D459Y	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1730	-	Renal(35;0.156)		459					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.1375G>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	11.56	1.674626	0.29693	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.44083	1.05;0.93	3.03	3.03	0.35002	.	0.159139	0.39544	U	0.001333	T	0.35970	0.0950	N	0.08118	0	0.31444	N	0.671576	D	0.69078	0.997	P	0.62813	0.907	T	0.37731	-0.9693	10	0.87932	D	0	-16.9484	7.3169	0.26505	0.0:0.7312:0.2688:0.0	.	459	Q9ULW6	NP1L2_HUMAN	Y	459;317	ENSP00000362616:D459Y;ENSP00000441555:D317Y	ENSP00000362616:D459Y	D	-	1	0	NAP1L2	72349679	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	1.919000	0.40015	1.758000	0.51981	0.513000	0.50165	GAT		0.348	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		16	15	1	0	1.3612e-06	1	1.41271e-06	16	15				
C9orf3	84909	broad.mit.edu	37	9	97522357	97522357	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:97522357G>A	ENST00000375315.2	+	1	292	c.292G>A	c.(292-294)Gat>Aat	p.D98N	C9orf3_ENST00000277198.2_Missense_Mutation_p.D98N|C9orf3_ENST00000297979.5_Missense_Mutation_p.D98N	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	98					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGAATATAATGATTTTGCAAT	0.398																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(292-294)Gat>Aat		chromosome 9 open reading frame 3							115.0	119.0	118.0					9																	97522357		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522357G>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.292G>A	9.37:g.97522357G>A	ENSP00000364464:p.Asp98Asn					C9orf3_ENST00000297979.5_Missense_Mutation_p.D98N|C9orf3_ENST00000277198.2_Missense_Mutation_p.D98N	p.D98N	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	292	+			98					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.292G>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112328	0.56398	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.16324	2.41;2.35;2.57	4.88	3.98	0.46160	.	0.178408	0.39544	N	0.001326	T	0.32912	0.0845	L	0.58101	1.795	0.80722	D	1	P;D;B;P	0.62365	0.856;0.991;0.103;0.953	B;P;B;P	0.59703	0.388;0.862;0.067;0.561	T	0.09796	-1.0658	10	0.72032	D	0.01	-4.9822	13.4361	0.61084	0.0757:0.0:0.9243:0.0	.	98;98;98;98	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	N	98	ENSP00000277198:D98N;ENSP00000297979:D98N;ENSP00000364464:D98N	ENSP00000277198:D98N	D	+	1	0	C9orf3	96562178	1.000000	0.71417	0.869000	0.34112	0.938000	0.57974	4.307000	0.59123	1.416000	0.47057	0.563000	0.77884	GAT		0.398	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		80	81	0	0	0	1	0	80	81				
RASAL1	8437	broad.mit.edu	37	12	113553483	113553483	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:113553483C>T	ENST00000261729.5	-	11	1275	c.960G>A	c.(958-960)ggG>ggA	p.G320G	RASAL1_ENST00000446861.3_Silent_p.G320G|RASAL1_ENST00000546530.1_Silent_p.G320G|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.G320G			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	320	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCAGAAAGCGCCCAGCCAGTC	0.632																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(958-960)ggG>ggA		RAS protein activator like 1 (GAP1 like)							51.0	53.0	53.0					12																	113553483		2203	4300	6503	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553483C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.960G>A	12.37:g.113553483C>T						RASAL1_ENST00000548055.1_Silent_p.G320G|RASAL1_ENST00000261729.5_Silent_p.G320G|RASAL1_ENST00000446861.3_Silent_p.G320G|RASAL1_ENST00000418411.2_5'UTR	p.G320G	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			11	1245	-			320			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.960G>A	CCDS9165.1																																																																																				0.632	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		15	19	0	0	0	1	0	15	19				
ZNF85	7639	broad.mit.edu	37	19	21132403	21132403	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:21132403G>T	ENST00000328178.8	+	4	1196	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	ZNF85_ENST00000601023.1_Missense_Mutation_p.E302D|ZNF85_ENST00000345030.6_Missense_Mutation_p.E328D	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	361					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CCACACATGAGGTAATTCATA	0.358																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(904-906)gaG>gaT		zinc finger protein 85							47.0	52.0	50.0					19																	21132403		2199	4298	6497	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132403G>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1083G>T	19.37:g.21132403G>T	ENSP00000329793:p.Glu361Asp					ZNF85_ENST00000328178.8_Missense_Mutation_p.E361D|ZNF85_ENST00000345030.6_Missense_Mutation_p.E328D	p.E302D			Q03923	ZNF85_HUMAN			2	1552	+			361					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.906G>T	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	8.918	0.960391	0.18507	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.50277	0.75;0.75	1.35	0.026	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50154	0.1599	M	0.63169	1.94	0.21064	N	0.999792	B;P;P	0.39003	0.217;0.625;0.654	B;B;P	0.48901	0.138;0.315;0.594	T	0.49011	-0.8983	9	0.87932	D	0	.	3.8307	0.08873	0.1784:0.2466:0.5749:0.0	.	328;302;361	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	D	361;328;236	ENSP00000329793:E361D;ENSP00000342340:E328D	ENSP00000329793:E361D	E	+	3	2	ZNF85	20924243	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.048000	0.14078	-0.181000	0.10619	-0.379000	0.06801	GAG		0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		16	27	1	0	4.7546e-09	1	5.07158e-09	16	27				
ME2	4200	broad.mit.edu	37	18	48439269	48439269	+	Missense_Mutation	SNP	C	C	T	rs16952692	byFrequency	TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr18:48439269C>T	ENST00000321341.5	+	4	613	c.341C>T	c.(340-342)cCg>cTg	p.P114L	ME2_ENST00000382927.3_Missense_Mutation_p.P114L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	114			P -> L (in dbSNP:rs16952692).		malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GTATATACACCGACGGTTGGT	0.328																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(340-342)cCg>cTg		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						141.0	141.0	141.0					18																	48439269		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48439269C>T	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.341C>T	18.37:g.48439269C>T	ENSP00000321070:p.Pro114Leu					ME2_ENST00000382927.3_Missense_Mutation_p.P114L	p.P114L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	4	613	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	114		P -> L (in dbSNP:rs16952692).			B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.341C>T	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960369	0.92791	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.78924	-1.22;-1.22	5.44	5.44	0.79542	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95509	0.8584	10	0.87932	D	0	-15.8686	18.3934	0.90491	0.0:1.0:0.0:0.0	rs16952692;rs52793800;rs16952692	114;114	Q9BWL6;P23368	.;MAOM_HUMAN	L	114	ENSP00000321070:P114L;ENSP00000372384:P114L	ENSP00000321070:P114L	P	+	2	0	ME2	46693267	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	7.732000	0.84908	2.702000	0.92279	0.655000	0.94253	CCG		0.328	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		25	52	0	0	0	1	0	25	52				
SRRM4	84530	broad.mit.edu	37	12	119583252	119583252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:119583252G>T	ENST00000267260.4	+	9	1226	c.838G>T	c.(838-840)Gga>Tga	p.G280*		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	280	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CACCTCGCGAGGACGTTCCCA	0.607																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(838-840)Gga>Tga		serine/arginine repetitive matrix 4							30.0	34.0	32.0					12																	119583252		1985	4154	6139	SO:0001587	stop_gained	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583252G>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.838G>T	12.37:g.119583252G>T	ENSP00000267260:p.Gly280*						p.G280*	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1226	+			280			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Nonsense_Mutation	SNP	ENST00000267260.4	37	c.838G>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	39	7.716071	0.98450	.	.	ENSG00000139767	ENST00000267260	.	.	.	5.48	5.48	0.80851	.	0.122641	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0117	13.6262	0.62165	0.0742:0.0:0.9258:0.0	.	.	.	.	X	280	.	.	G	+	1	0	SRRM4	118067635	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.045000	0.64220	2.575000	0.86900	0.655000	0.94253	GGA		0.607	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		6	16	1	0	3.59834e-05	1	3.69455e-05	6	16				
MKRN2	23609	broad.mit.edu	37	3	12623356	12623356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:12623356G>T	ENST00000170447.7	+	7	1155	c.1018G>T	c.(1018-1020)Gga>Tga	p.G340*	MKRN2_ENST00000411987.1_Nonsense_Mutation_p.G297*|MKRN2_ENST00000448482.1_Nonsense_Mutation_p.G338*	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	340					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CTGCCCATTTGGAAGCAAATG	0.498																																						ENST00000170447.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.(1018-1020)Gga>Tga		makorin ring finger protein 2							108.0	110.0	109.0					3																	12623356		2203	4300	6503	SO:0001587	stop_gained	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12623356G>T		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.1018G>T	3.37:g.12623356G>T	ENSP00000170447:p.Gly340*					MKRN2_ENST00000411987.1_Nonsense_Mutation_p.G297*|MKRN2_ENST00000448482.1_Nonsense_Mutation_p.G338*	p.G340*	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN			7	1155	+			340					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Nonsense_Mutation	SNP	ENST00000170447.7	37	c.1018G>T	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	G	37	6.020575	0.97211	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	X	340;297;338	.	ENSP00000170447:G340X	G	+	1	0	MKRN2	12598356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.470000	0.97683	2.713000	0.92767	0.655000	0.94253	GGA		0.498	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		11	104	1	0	0.000673444	1	0.000687773	11	104				
FRAS1	80144	broad.mit.edu	37	4	79400835	79400835	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:79400835C>T	ENST00000264895.6	+	56	8846	c.8406C>T	c.(8404-8406)tcC>tcT	p.S2802S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2798	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGACTGTGTCCCTGGGCAACA	0.532																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8404-8406)tcC>tcT		Fraser syndrome 1							63.0	67.0	66.0					4																	79400835		2080	4221	6301	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400835C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8406C>T	4.37:g.79400835C>T							p.S2802S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			56	8846	+			2797			Calx-beta 3.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8406C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	0.135	-1.109324	0.01813	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.72	4.88	0.63580	.	.	.	.	.	T	0.70692	0.3253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70099	-0.4965	4	.	.	.	.	14.878	0.70510	0.0:0.9312:0.0:0.0688	.	.	.	.	S	1031	.	.	P	+	1	0	FRAS1	79619859	0.996000	0.38824	0.999000	0.59377	0.006000	0.05464	0.938000	0.28965	1.430000	0.47334	0.644000	0.83932	CCT		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	24	0	0	0	1	0	12	24				
VPS13B	157680	broad.mit.edu	37	8	100403871	100403871	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:100403871G>T	ENST00000358544.2	+	21	3132	c.3021G>T	c.(3019-3021)aaG>aaT	p.K1007N	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1007N|VPS13B_ENST00000395996.1_Missense_Mutation_p.K1007N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1007					protein transport (GO:0015031)			p.K1007K(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTGGCAAAGCAGCAATCAT	0.453																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			2	Substitution - coding silent(2)	p.K1007K(2)	urinary_tract(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3019-3021)aaG>aaT		vacuolar protein sorting 13 homolog B (yeast)							108.0	104.0	105.0					8																	100403871		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100403871G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3021G>T	8.37:g.100403871G>T	ENSP00000351346:p.Lys1007Asn					VPS13B_ENST00000357162.2_Missense_Mutation_p.K1007N|VPS13B_ENST00000358544.2_Missense_Mutation_p.K1007N	p.K1007N			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		21	3132	+	Breast(36;3.73e-07)		1007					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3021G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845037	0.71603	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.50277	0.75;0.75;0.75	5.78	4.0	0.46444	.	0.055822	0.64402	D	0.000003	T	0.49440	0.1557	L	0.29908	0.895	0.43708	D	0.996173	D;D;D;D	0.63046	0.96;0.992;0.986;0.959	P;P;P;P	0.56563	0.572;0.801;0.638;0.714	T	0.49224	-0.8962	10	0.56958	D	0.05	.	12.5194	0.56050	0.1353:0.0:0.8647:0.0	.	1006;1007;1007;1007	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	N	1007	ENSP00000349685:K1007N;ENSP00000351346:K1007N;ENSP00000379318:K1007N	ENSP00000349685:K1007N	K	+	3	2	VPS13B	100473047	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.219000	0.42899	0.804000	0.34136	0.585000	0.79938	AAG		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		46	60	1	0	6.21074e-16	1	7.09799e-16	46	60				
MOCS1	4337	broad.mit.edu	37	6	39874632	39874632	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:39874632G>A	ENST00000340692.5	-	11	1415	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V	MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.A368V|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000308559.7_Missense_Mutation_p.A455V|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.A471V			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	471	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCCTGAGGGGGCAGCAGAAGC	0.582																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1363-1365)gCc>gTc		molybdenum cofactor synthesis 1							57.0	58.0	58.0					6																	39874632		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874632G>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1412C>T	6.37:g.39874632G>A	ENSP00000344794:p.Ala471Val					MOCS1_ENST00000373195.3_Missense_Mutation_p.A368V|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.A471V|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.A471V	p.A455V			Q9NZB8	MOCS1_HUMAN			10	1497	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		471			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.1364C>T		.	.	.	.	.	.	.	.	.	.	G	0.197	-1.048063	0.01981	.	.	ENSG00000124615	ENST00000308559;ENST00000373195;ENST00000340692;ENST00000425303	T;T;T;T	0.31510	1.49;1.5;1.53;1.53	5.21	1.02	0.19986	.	0.989301	0.08238	N	0.976494	T	0.05960	0.0155	.	.	.	0.09310	N	1	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.06405	0.002;0.001;0.002	T	0.39272	-0.9622	9	0.27082	T	0.32	-7.8101	4.7937	0.13261	0.2757:0.1576:0.5668:0.0	.	455;471;471	Q9NZB8-2;Q9NZB8;Q9NZB8-8	.;MOCS1_HUMAN;.	V	455;368;471;471	ENSP00000309843:A455V;ENSP00000362291:A368V;ENSP00000344794:A471V;ENSP00000416478:A471V	ENSP00000309843:A455V	A	-	2	0	MOCS1	39982610	0.000000	0.05858	0.135000	0.22099	0.037000	0.13140	-0.091000	0.11146	0.561000	0.29186	0.563000	0.77884	GCC		0.582	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		28	81	0	0	0	1	0	28	81				
XIRP2	129446	broad.mit.edu	37	2	168067319	168067319	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:168067319C>T	ENST00000409728.1	+	5	825	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	XIRP2_ENST00000420519.1_Missense_Mutation_p.L246F|XIRP2_ENST00000409043.1_Missense_Mutation_p.L213F|XIRP2_ENST00000409756.2_Missense_Mutation_p.L213F|XIRP2_ENST00000409195.1_Missense_Mutation_p.L213F|XIRP2_ENST00000295237.9_Missense_Mutation_p.L213F|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000409273.1_5'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	38					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTGTCAGACCTCCACGAAGT	0.562																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(637-639)Ctc>Ttc		xin actin-binding repeat containing 2							117.0	125.0	122.0					2																	168067319		2071	4211	6282	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168067319C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.736C>T	2.37:g.168067319C>T	ENSP00000386619:p.Leu246Phe					XIRP2_ENST00000409756.2_Missense_Mutation_p.L213F|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.L246F|XIRP2_ENST00000409043.1_Missense_Mutation_p.L213F|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000295237.9_Missense_Mutation_p.L213F|XIRP2_ENST00000409728.1_Missense_Mutation_p.L246F	p.L213F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			4	726	+			38					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.637C>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934664	0.34189	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.81163	-1.46;-1.38;3.88;-1.46;-1.38;3.88	5.93	3.83	0.44106	.	0.000000	0.53938	D	0.000050	T	0.69477	0.3115	L	0.29908	0.895	0.23923	N	0.996453	B;B;B	0.21606	0.058;0.058;0.024	B;B;B	0.25884	0.064;0.064;0.04	T	0.60835	-0.7184	10	0.42905	T	0.14	-2.1722	9.8491	0.41046	0.1448:0.7716:0.0:0.0836	.	213;246;38	A4UGR9-4;A4UGR9-6;A4UGR9-3	.;.;.	F	213;246;213;213;246;213	ENSP00000386454:L213F;ENSP00000386619:L246F;ENSP00000386840:L213F;ENSP00000386724:L213F;ENSP00000415541:L246F;ENSP00000295237:L213F	ENSP00000295237:L213F	L	+	1	0	XIRP2	167775565	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	1.501000	0.35693	1.508000	0.48769	-0.152000	0.13540	CTC		0.562	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		37	92	0	0	0	1	0	37	92				
KRT1	3848	broad.mit.edu	37	12	53069019	53069019	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:53069019G>A	ENST00000252244.3	-	9	1951	c.1893C>T	c.(1891-1893)agC>agT	p.S631S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	631	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CAAACTTCACGCTGGAACTGC	0.562																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1891-1893)agC>agT		keratin 1							90.0	100.0	97.0					12																	53069019		2203	4300	6503	SO:0001819	synonymous_variant	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069019G>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1893C>T	12.37:g.53069019G>A							p.S631S	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1951	-			631			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	c.1893C>T	CCDS8836.1																																																																																				0.562	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		44	133	0	0	0	1	0	44	133				
KDM2B	84678	broad.mit.edu	37	12	121970759	121970759	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:121970759A>T	ENST00000377071.4	-	8	955	c.883T>A	c.(883-885)Tgc>Agc	p.C295S	KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000377069.4_Missense_Mutation_p.C264S|KDM2B_ENST00000536437.1_Missense_Mutation_p.C178S|KDM2B_ENST00000543852.1_Missense_Mutation_p.C64S	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	295	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTCTTTGGCATCGTTCCACA	0.552																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(790-792)Tgc>Agc		lysine (K)-specific demethylase 2B							91.0	94.0	93.0					12																	121970759		2035	4194	6229	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121970759A>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.883T>A	12.37:g.121970759A>T	ENSP00000366271:p.Cys295Ser					KDM2B_ENST00000543852.1_Missense_Mutation_p.C64S|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000536437.1_Missense_Mutation_p.C178S|KDM2B_ENST00000377071.4_Missense_Mutation_p.C295S	p.C264S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			8	1196	-			295			JmjC.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.790T>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865205	0.91511	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000538379;ENST00000545022;ENST00000543852;ENST00000541511;ENST00000539394	T;T;T;T;T;T;T;T	0.71579	-0.52;-0.52;-0.52;-0.52;-0.58;-0.58;-0.58;-0.58	5.1	5.1	0.69264	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	D	0.000012	D	0.87030	0.6076	M	0.91196	3.185	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.946	D;D;P	0.83275	0.996;0.984;0.901	D	0.90131	0.4206	10	0.87932	D	0	-21.6741	14.904	0.70703	1.0:0.0:0.0:0.0	.	178;295;264	Q1RLM7;Q8NHM5;A8MRS1	.;KDM2B_HUMAN;.	S	295;264;295;178;295;295;258;64;64;64;64;178	ENSP00000366269:C264S;ENSP00000366271:C295S;ENSP00000445196:C178S;ENSP00000398279:C258S;ENSP00000445102:C64S;ENSP00000437497:C64S;ENSP00000440942:C64S;ENSP00000442293:C64S	ENSP00000261824:C295S	C	-	1	0	KDM2B	120455142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.958000	0.93099	1.927000	0.55829	0.459000	0.35465	TGC		0.552	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		32	28	0	0	0	1	0	32	28				
GSTM4	2948	broad.mit.edu	37	1	110199045	110199045	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:110199045G>A	ENST00000369836.4	+	1	343	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	GSTM4_ENST00000326729.5_Missense_Mutation_p.G12R|GSTM4_ENST00000336075.5_Missense_Mutation_p.G12R|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000369833.1_5'UTR	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	12	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGACATCCGCGGGGTGAGTGA	0.652																																						ENST00000369836.4																			0				endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(34-36)Ggg>Agg		glutathione S-transferase mu 4	Glutathione(DB00143)						95.0	93.0	94.0					1																	110199045		2203	4300	6503	SO:0001583	missense	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110199045G>A	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.34G>A	1.37:g.110199045G>A	ENSP00000358851:p.Gly12Arg					GSTM4_ENST00000336075.5_Missense_Mutation_p.G12R|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Missense_Mutation_p.G12R	p.G12R	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	1	343	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	12			GST N-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Missense_Mutation	SNP	ENST00000369836.4	37	c.34G>A	CCDS807.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028799	0.75504	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729	T;T;T	0.09817	2.94;2.94;2.94	3.91	3.91	0.45181	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000003	T	0.47432	0.1445	H	0.99859	4.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.974;0.999;0.98;0.992	T	0.71206	-0.4661	10	0.72032	D	0.01	-21.8013	13.2636	0.60120	0.0:0.0:1.0:0.0	.	12;12;12;12	Q4JNT8;Q0D2I8;Q03013-2;Q03013	.;.;.;GSTM4_HUMAN	R	12	ENSP00000358851:G12R;ENSP00000336744:G12R;ENSP00000316471:G12R	ENSP00000316471:G12R	G	+	1	0	GSTM4	110000568	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.358000	0.66064	2.193000	0.70182	0.561000	0.74099	GGG		0.652	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		27	109	0	0	0	1	0	27	109				
DRD1	1812	broad.mit.edu	37	5	174869953	174869953	+	Missense_Mutation	SNP	C	C	G	rs5330		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:174869953C>G	ENST00000393752.2	-	2	1142	c.150G>C	c.(148-150)agG>agC	p.R50S		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	50			R -> S (in dbSNP:rs5330).		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)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGTGTCGGAACCTGATAACGG	0.572																																						ENST00000393752.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	GRCh37	CM086310	DRD1	M	rs5330	c.(148-150)agG>agC		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						99.0	83.0	89.0					5																	174869953		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869953C>G	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.150G>C	5.37:g.174869953C>G	ENSP00000377353:p.Arg50Ser						p.R50S	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1142	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	50		R -> S (in dbSNP:rs5330).			B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.150G>C	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007841	0.35415	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.39997	1.05	5.39	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.046228	0.85682	D	0.000000	T	0.38532	0.1044	M	0.77103	2.36	0.53688	D	0.999975	B	0.32382	0.368	B	0.32090	0.14	T	0.15009	-1.0452	10	0.41790	T	0.15	.	4.4167	0.11459	0.1276:0.6085:0.1235:0.1404	.	50	P21728	DRD1_HUMAN	S	50	ENSP00000377353:R50S	ENSP00000327652:R50S	R	-	3	2	DRD1	174802559	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	0.872000	0.28037	0.316000	0.23135	0.650000	0.86243	AGG		0.572	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		19	68	0	0	0	1	0	19	68				
PAPSS1	9061	broad.mit.edu	37	4	108566209	108566209	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:108566209G>C	ENST00000265174.4	-	10	1527	c.1255C>G	c.(1255-1257)Caa>Gaa	p.Q419E		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	419					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTGCGTAGTTGAAATGCAAAG	0.433																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1255-1257)Caa>Gaa		3'-phosphoadenosine 5'-phosphosulfate synthase 1							86.0	86.0	86.0					4																	108566209		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108566209G>C	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1255C>G	4.37:g.108566209G>C	ENSP00000265174:p.Gln419Glu						p.Q419E	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	10	1527	-		Hepatocellular(203;0.217)	419					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1255C>G	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018503	0.75275	.	.	ENSG00000138801	ENST00000265174	T	0.39406	1.08	5.03	5.03	0.67393	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.055967	0.64402	D	0.000001	T	0.64349	0.2590	H	0.99225	4.475	0.80722	D	1	P	0.34724	0.465	B	0.28465	0.09	T	0.78876	-0.2031	10	0.87932	D	0	-11.0283	18.4014	0.90518	0.0:0.0:1.0:0.0	.	419	O43252	PAPS1_HUMAN	E	419	ENSP00000265174:Q419E	ENSP00000265174:Q419E	Q	-	1	0	PAPSS1	108785658	1.000000	0.71417	0.959000	0.39883	0.883000	0.51084	9.295000	0.96095	2.331000	0.79229	0.460000	0.39030	CAA		0.433	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			15	42	0	0	0	1	0	15	42				
SUFU	51684	broad.mit.edu	37	10	104309846	104309846	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:104309846G>T	ENST00000369902.3	+	3	603	c.437G>T	c.(436-438)cGa>cTa	p.R146L	SUFU_ENST00000423559.2_Missense_Mutation_p.R146L|SUFU_ENST00000369899.2_Missense_Mutation_p.R146L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	146					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGCTTGGCACGATACGTGTTC	0.527			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(436-438)cGa>cTa		suppressor of fused homolog (Drosophila)							95.0	88.0	91.0					10																	104309846		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104309846G>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.437G>T	10.37:g.104309846G>T	ENSP00000358918:p.Arg146Leu					SUFU_ENST00000369899.2_Missense_Mutation_p.R146L|SUFU_ENST00000423559.2_Missense_Mutation_p.R146L	p.R146L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	3	603	+		Colorectal(252;0.207)	146					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.437G>T	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758078	0.89843	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.85088	-1.94;-1.94;-1.94	5.23	5.23	0.72850	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.93710	0.7990	M	0.90309	3.105	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	P;P;D	0.68943	0.872;0.857;0.961	D	0.94748	0.7925	10	0.72032	D	0.01	-12.057	18.8047	0.92032	0.0:0.0:1.0:0.0	.	146;146;146	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	L	146	ENSP00000358918:R146L;ENSP00000358915:R146L;ENSP00000411597:R146L	ENSP00000358915:R146L	R	+	2	0	SUFU	104299836	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.464000	0.97655	2.456000	0.83038	0.555000	0.69702	CGA		0.527	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		19	43	1	0	1.01871e-10	1	1.11132e-10	19	43				
KIF16B	55614	broad.mit.edu	37	20	16359864	16359864	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:16359864A>C	ENST00000354981.2	-	19	2940	c.2783T>G	c.(2782-2784)tTt>tGt	p.F928C	KIF16B_ENST00000408042.1_Missense_Mutation_p.F928C|KIF16B_ENST00000378003.2_Missense_Mutation_p.F154C|KIF16B_ENST00000355755.3_Missense_Mutation_p.F928C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	928	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAGAATTTCAAATGCTCTCTG	0.438																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2782-2784)tTt>tGt		kinesin family member 16B							112.0	105.0	107.0					20																	16359864		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359864A>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2783T>G	20.37:g.16359864A>C	ENSP00000347076:p.Phe928Cys					KIF16B_ENST00000355755.3_Missense_Mutation_p.F928C|KIF16B_ENST00000378003.2_Missense_Mutation_p.F154C|KIF16B_ENST00000408042.1_Missense_Mutation_p.F928C	p.F928C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2940	-			928			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2783T>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	0.412	-0.912978	0.02415	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.45	-1.17	0.09648	.	1.419340	0.03849	N	0.271973	T	0.10423	0.0255	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.10296	0.0;0.003;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.34104	-0.9842	10	0.37606	T	0.19	.	7.8822	0.29629	0.2391:0.4916:0.2692:0.0	.	928;928;928;928	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	C	928;928;772;154;928	ENSP00000347076:F928C;ENSP00000347995:F928C;ENSP00000367242:F154C;ENSP00000384164:F928C	ENSP00000347076:F928C	F	-	2	0	KIF16B	16307864	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.264000	0.18497	-0.512000	0.06505	-0.250000	0.11733	TTT		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		22	91	0	0	0	1	0	22	91				
OR4K15	81127	broad.mit.edu	37	14	20444508	20444508	+	Silent	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:20444508A>T	ENST00000305051.5	+	1	906	c.831A>T	c.(829-831)ccA>ccT	p.P277P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTGGACCATGCATTTTCA	0.438																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(829-831)ccA>ccT		olfactory receptor, family 4, subfamily K, member 15							147.0	123.0	131.0					14																	20444508		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444508A>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.831A>T	14.37:g.20444508A>T							p.P277P	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	906	+	all_cancers(95;0.00108)		277					B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.831A>T	CCDS32026.1																																																																																				0.438	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			27	76	0	0	0	1	0	27	76				
BMF	90427	broad.mit.edu	37	15	40398126	40398126	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:40398126G>A	ENST00000354670.4	-	3	396	c.162C>T	c.(160-162)caC>caT	p.H54H	BMF_ENST00000220446.4_Silent_p.H54H|BMF_ENST00000561282.1_Silent_p.H54H|BMF_ENST00000561360.1_Silent_p.H54H|BMF_ENST00000558774.1_Silent_p.H54H|BMF_ENST00000431415.3_Silent_p.H54H|BMF_ENST00000559701.1_Silent_p.H54H|BMF_ENST00000397573.1_Silent_p.H54H|BMF_ENST00000558057.1_5'Flank	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	54					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GGCCACAGCAGTGGGTGAGAG	0.637																																						ENST00000354670.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(160-162)caC>caT		Bcl2 modifying factor							71.0	75.0	74.0					15																	40398126		2203	4300	6503	SO:0001819	synonymous_variant	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40398126G>A	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.162C>T	15.37:g.40398126G>A						BMF_ENST00000431415.3_Silent_p.H54H|BMF_ENST00000558774.1_Silent_p.H54H|BMF_ENST00000397573.1_Silent_p.H54H|BMF_ENST00000220446.4_Silent_p.H54H|BMF_ENST00000559701.1_Silent_p.H54H|BMF_ENST00000561282.1_Silent_p.H54H|BMF_ENST00000561360.1_Silent_p.H54H	p.H54H	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	3	396	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	54					Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Silent	SNP	ENST00000354670.4	37	c.162C>T	CCDS10052.1																																																																																				0.637	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503		21	63	0	0	0	1	0	21	63				
MYBBP1A	10514	broad.mit.edu	37	17	4443689	4443689	+	Missense_Mutation	SNP	G	G	A	rs138042708		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:4443689G>A	ENST00000254718.4	-	25	3694	c.3388C>T	c.(3388-3390)Cgc>Tgc	p.R1130C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1130C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1130					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCGTGCAGGCGGCTGGAGCCG	0.642																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3388-3390)Cgc>Tgc		MYB binding protein (P160) 1a		G	CYS/ARG,CYS/ARG	4,4402	6.2+/-15.9	0,4,2199	59.0	57.0	58.0		3388,3388	3.8	1.0	17	dbSNP_134	58	0,8600		0,0,4300	yes	missense,missense	MYBBP1A	NM_001105538.1,NM_014520.3	180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	1130/1333,1130/1329	4443689	4,13002	2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443689G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3388C>T	17.37:g.4443689G>A	ENSP00000254718:p.Arg1130Cys					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1130C	p.R1130C			Q9BQG0	MBB1A_HUMAN			25	3694	-			1130					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3388C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389598	0.61956	9.08E-4	0.0	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.23754	1.89;1.89	4.73	3.75	0.43078	.	0.264586	0.38548	N	0.001654	T	0.35566	0.0936	L	0.32530	0.975	0.43930	D	0.996589	D;D	0.89917	1.0;1.0	P;D	0.65773	0.868;0.938	T	0.13098	-1.0522	10	0.72032	D	0.01	-16.2743	11.1151	0.48256	0.0:0.1865:0.8135:0.0	.	1130;1130	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	C	1130	ENSP00000370968:R1130C;ENSP00000254718:R1130C	ENSP00000254718:R1130C	R	-	1	0	MYBBP1A	4390438	0.999000	0.42202	0.998000	0.56505	0.539000	0.34962	1.634000	0.37123	1.332000	0.45431	0.555000	0.69702	CGC		0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		3	42	0	0	0	1	0	3	42				
SZT2	23334	broad.mit.edu	37	1	43911887	43911887	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:43911887G>A	ENST00000562955.1	+	63	8783	c.8783G>A	c.(8782-8784)cGg>cAg	p.R2928Q	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.R2086Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2985					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACCTGCAGCGGGCACTGCCT	0.577																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8782-8784)cGg>cAg		seizure threshold 2 homolog (mouse)							163.0	169.0	167.0					1																	43911887		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43911887G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8783G>A	1.37:g.43911887G>A	ENSP00000457168:p.Arg2928Gln					SZT2_ENST00000372442.1_Missense_Mutation_p.R2086Q	p.R2928Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			63	8783	+			2985					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.8783G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743917	0.89663	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	L	0.40543	1.245	0.35041	D	0.759737	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.77507	-0.2562	9	0.66056	D	0.02	.	19.0804	0.93179	0.0:0.0:1.0:0.0	.	2985;2928	Q5T011;Q5T011-5	SZT2_HUMAN;.	Q	2086	.	ENSP00000361519:R2086Q	R	+	2	0	SZT2	43684474	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.312000	0.96287	2.572000	0.86782	0.591000	0.81541	CGG		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	148	0	0	0	1	0	4	148				
RBL2	5934	broad.mit.edu	37	16	53481001	53481001	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:53481001T>C	ENST00000262133.6	+	4	757	c.620T>C	c.(619-621)cTt>cCt	p.L207P	RBL2_ENST00000379935.4_3'UTR|RP11-44F14.5_ENST00000565073.1_RNA|RBL2_ENST00000544545.1_5'Flank	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	207					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTTGGGTGCTTTTTATATAT	0.284																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(619-621)cTt>cCt		retinoblastoma-like 2 (p130)							56.0	57.0	56.0					16																	53481001		2197	4300	6497	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53481001T>C	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.620T>C	16.37:g.53481001T>C	ENSP00000262133:p.Leu207Pro					RBL2_ENST00000379935.4_3'UTR	p.L207P	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			4	757	+			207					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.620T>C	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212191	0.79240	.	.	ENSG00000103479	ENST00000262133;ENST00000544405	T;T	0.80653	-1.4;-1.4	5.38	5.38	0.77491	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92328	0.5871	10	0.72032	D	0.01	-16.6605	15.3883	0.74723	0.0:0.0:0.0:1.0	.	207;207	Q8NE70;Q08999	.;RBL2_HUMAN	P	207;133	ENSP00000262133:L207P;ENSP00000443744:L133P	ENSP00000262133:L207P	L	+	2	0	RBL2	52038502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.735000	0.84939	2.047000	0.60756	0.482000	0.46254	CTT		0.284	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		4	34	0	0	0	1	0	4	34				
FAM47B	170062	broad.mit.edu	37	X	34962546	34962546	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:34962546G>A	ENST00000329357.5	+	1	1634	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	533										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGGAGACGCCGGGCGGCACCG	0.502																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1597-1599)cGg>cAg		family with sequence similarity 47, member B							91.0	81.0	85.0					X																	34962546		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962546G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1598G>A	X.37:g.34962546G>A	ENSP00000328307:p.Arg533Gln						p.R533Q	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1634	+			533					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1598G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.421745	0.00186	.	.	ENSG00000189132	ENST00000329357	T	0.24723	1.84	0.602	-1.2	0.09554	.	.	.	.	.	T	0.04998	0.0134	N	0.00996	-1.065	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.20306	-1.0279	8	0.02654	T	1	.	.	.	.	.	533	Q8NA70	FA47B_HUMAN	Q	533	ENSP00000328307:R533Q	ENSP00000328307:R533Q	R	+	2	0	FAM47B	34872467	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	-0.646000	0.05403	-1.637000	0.01531	-1.891000	0.00535	CGG		0.502	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		38	17	0	0	0	1	0	38	17				
CWH43	80157	broad.mit.edu	37	4	49000548	49000548	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:49000548T>G	ENST00000226432.4	+	6	968	c.785T>G	c.(784-786)tTg>tGg	p.L262W	CWH43_ENST00000513409.1_Missense_Mutation_p.L235W	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	262					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGTACTGGTTTGATCTGGTGG	0.458																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(784-786)tTg>tGg		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							529.0	409.0	449.0					4																	49000548		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49000548T>G		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.785T>G	4.37:g.49000548T>G	ENSP00000226432:p.Leu262Trp					CWH43_ENST00000513409.1_Missense_Mutation_p.L235W	p.L262W	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			6	968	+			262					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.785T>G	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293946	0.23564	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.48522	1.39;0.81	4.16	4.16	0.48862	.	0.609815	0.14643	N	0.307054	T	0.55465	0.1922	L	0.50333	1.59	0.09310	N	1	D	0.64830	0.994	P	0.58873	0.847	T	0.42783	-0.9431	9	.	.	.	.	9.7257	0.40330	0.0:0.0:0.1738:0.8262	.	262	Q9H720	PG2IP_HUMAN	W	262;235	ENSP00000226432:L262W;ENSP00000422802:L235W	.	L	+	2	0	CWH43	48695305	0.506000	0.26139	0.048000	0.18961	0.326000	0.28443	2.997000	0.49457	2.116000	0.64780	0.482000	0.46254	TTG		0.458	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		13	88	0	0	0	1	0	13	88				
THBD	7056	broad.mit.edu	37	20	23028618	23028618	+	Silent	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:23028618C>A	ENST00000377103.2	-	1	1760	c.1524G>T	c.(1522-1524)ccG>ccT	p.P508P		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	508					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GCCCCACGGCCGGAGGAGTCA	0.682																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(1522-1524)ccG>ccT		thrombomodulin	Drotrecogin alfa(DB00055)						16.0	19.0	18.0					20																	23028618		2198	4296	6494	SO:0001819	synonymous_variant	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23028618C>A		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1524G>T	20.37:g.23028618C>A							p.P508P	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1760	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		508					Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	c.1524G>T	CCDS13148.1																																																																																				0.682	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			24	11	1	0	6.21321e-17	1	7.18637e-17	24	11				
HOXD3	3232	broad.mit.edu	37	2	177036368	177036368	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:177036368C>A	ENST00000468418.3	+	4	2755	c.665C>A	c.(664-666)cCg>cAg	p.P222Q	HOXD3_ENST00000410016.1_Missense_Mutation_p.P222Q|HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000249440.3_Missense_Mutation_p.P222Q			P31249	HXD3_HUMAN	homeobox D3	222					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TTGTGCCGGCCGCGCCGCGTG	0.597																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(664-666)cCg>cAg		homeobox D3							75.0	73.0	74.0					2																	177036368		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036368C>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.665C>A	2.37:g.177036368C>A	ENSP00000424734:p.Pro222Gln					HOXD3_ENST00000249440.3_Missense_Mutation_p.P222Q|HOXD3_ENST00000410016.1_Missense_Mutation_p.P222Q	p.P222Q			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	2755	+			222					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.665C>A	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689586	0.88735	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.95821	-3.82;-3.82;-3.82	5.21	5.21	0.72293	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97535	1.0082	10	0.72032	D	0.01	.	18.7428	0.91780	0.0:1.0:0.0:0.0	.	222	P31249	HXD3_HUMAN	Q	222	ENSP00000424734:P222Q;ENSP00000386498:P222Q;ENSP00000249440:P222Q	ENSP00000249440:P222Q	P	+	2	0	HOXD3	176744614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.946000	0.70234	2.423000	0.82170	0.561000	0.74099	CCG		0.597	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			24	142	1	0	1.10923e-09	1	1.20323e-09	24	142				
HAUS5	23354	broad.mit.edu	37	19	36109507	36109507	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:36109507C>T	ENST00000203166.5	+	12	947	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	HAUS5_ENST00000379045.2_Silent_p.S286S	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	308					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGTCTCCCAGCGGAGCACCCT	0.642																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(922-924)Cgg>Tgg		HAUS augmin-like complex, subunit 5							81.0	85.0	84.0					19																	36109507		2015	4168	6183	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36109507C>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.922C>T	19.37:g.36109507C>T	ENSP00000439056:p.Arg308Trp					HAUS5_ENST00000379045.2_Silent_p.S286S	p.R308W	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			12	947	+			308					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.922C>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793258	0.50102	.	.	ENSG00000249115	ENST00000203166	T	0.32988	1.43	5.6	-1.17	0.09648	.	0.089676	0.46758	D	0.000272	T	0.50069	0.1594	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.55515	-0.8129	10	0.62326	D	0.03	-0.6455	14.0778	0.64900	0.7047:0.2953:0.0:0.0	.	308	O94927	HAUS5_HUMAN	W	308	ENSP00000439056:R308W	ENSP00000439056:R308W	R	+	1	2	HAUS5	40801347	0.983000	0.35010	0.989000	0.46669	0.122000	0.20287	-0.138000	0.10374	-0.026000	0.13895	0.563000	0.77884	CGG		0.642	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			49	108	0	0	0	1	0	49	108				
SPTA1	6708	broad.mit.edu	37	1	158619721	158619721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:158619721C>T	ENST00000368147.4	-	25	3674	c.3494G>A	c.(3493-3495)tGg>tAg	p.W1165*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1165					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGAACCCCAGCGGGAATT	0.448																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3493-3495)tGg>tAg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							27.0	27.0	27.0					1																	158619721		1839	4103	5942	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158619721C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3494G>A	1.37:g.158619721C>T	ENSP00000357129:p.Trp1165*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W1165*	p.W1165*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			25	3674	-	all_hematologic(112;0.0378)		1165					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.3494G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	43	9.955063	0.99304	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.08	5.08	0.68730	.	0.000000	0.30410	N	0.009696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2337	0.86992	0.0:1.0:0.0:0.0	.	.	.	.	X	1165	.	ENSP00000357129:W1165X	W	-	2	0	SPTA1	156886345	1.000000	0.71417	0.994000	0.49952	0.598000	0.36846	6.743000	0.74848	2.621000	0.88768	0.650000	0.86243	TGG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	13	0	0	0	1	0	4	13				
SLITRK4	139065	broad.mit.edu	37	X	142717515	142717515	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:142717515G>A	ENST00000381779.4	-	2	1635	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	SLITRK4_ENST00000338017.4_Silent_p.D470D|SLITRK4_ENST00000356928.1_Silent_p.D470D	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	470						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCATGGAGTCAAAGGTGC	0.393																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1408-1410)gaC>gaT		SLIT and NTRK-like family, member 4							65.0	69.0	68.0					X																	142717515		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142717515G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1410C>T	X.37:g.142717515G>A						SLITRK4_ENST00000338017.4_Silent_p.D470D|SLITRK4_ENST00000356928.1_Silent_p.D470D	p.D470D	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1635	-	Acute lymphoblastic leukemia(192;6.56e-05)		470					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.1410C>T	CCDS14679.1																																																																																				0.393	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		31	16	0	0	0	1	0	31	16				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	91	0	0	0	1	0	4	91				
PRR23C	389152	broad.mit.edu	37	3	138762838	138762838	+	Missense_Mutation	SNP	G	G	A	rs367794975		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:138762838G>A	ENST00000413199.1	-	1	896	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	PRR23C_ENST00000502927.2_Missense_Mutation_p.R209C|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	209	Pro-rich.									breast(2)|lung(7)|skin(2)	11						CGTGGAGAGCGTCTCTCTGAA	0.637																																						ENST00000413199.1																			0				breast(2)|lung(7)|skin(2)	11						c.(625-627)Cgc>Tgc		proline rich 23C		G	CYS/ARG	0,1384		0,0,692	49.0	55.0	53.0		625	-4.3	0.0	3		53	1,3181		0,1,1590	no	missense	PRR23C	NM_001134657.1	180	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	possibly-damaging	209/263	138762838	1,4565	692	1591	2283	SO:0001583	missense	389152							g.chr3:138762838G>A		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.625C>T	3.37:g.138762838G>A	ENSP00000396648:p.Arg209Cys					MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.R209C	p.R209C	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN			1	896	-			209			Pro-rich.			Missense_Mutation	SNP	ENST00000413199.1	37	c.625C>T	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984529	0.35036	0.0	3.14E-4	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.11	-4.31	0.03698	.	1.512070	0.04167	N	0.324161	T	0.22399	0.0540	L	0.36672	1.1	0.09310	N	1	B	0.26081	0.141	B	0.19946	0.027	T	0.08932	-1.0698	9	0.38643	T	0.18	.	0.8733	0.01219	0.3412:0.3038:0.2019:0.1532	.	209	Q6ZRP0	PR23C_HUMAN	C	209	.	ENSP00000396648:R209C	R	-	1	0	PRR23C	140245528	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-1.025000	0.03600	-1.135000	0.02895	0.455000	0.32223	CGC		0.637	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		9	21	0	0	0	1	0	9	21				
DNAH3	55567	broad.mit.edu	37	16	21038387	21038387	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:21038387G>A	ENST00000261383.3	-	38	5501	c.5502C>T	c.(5500-5502)ccC>ccT	p.P1834P	DNAH3_ENST00000415178.1_Silent_p.P1834P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1834	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGAGGTCGGCGGGCTCGAAGA	0.567																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(5500-5502)ccC>ccT		dynein, axonemal, heavy chain 3							66.0	61.0	63.0					16																	21038387		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21038387G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5502C>T	16.37:g.21038387G>A						DNAH3_ENST00000415178.1_Silent_p.P1834P	p.P1834P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	38	5501	-			1834			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.5502C>T	CCDS10594.1																																																																																				0.567	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		14	22	0	0	0	1	0	14	22				
ODF3L1	161753	broad.mit.edu	37	15	76019675	76019675	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:76019675C>A	ENST00000332145.2	+	4	842	c.619C>A	c.(619-621)Cct>Act	p.P207T	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	207										kidney(1)|lung(1)	2						GTACGCCCGACCTGAGCCATC	0.632																																						ENST00000332145.2																			0				kidney(1)|lung(1)	2						c.(619-621)Cct>Act		outer dense fiber of sperm tails 3-like 1							97.0	78.0	84.0					15																	76019675		2197	4294	6491	SO:0001583	missense	161753							g.chr15:76019675C>A	BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.619C>A	15.37:g.76019675C>A	ENSP00000329584:p.Pro207Thr						p.P207T	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN			4	842	+			207						Missense_Mutation	SNP	ENST00000332145.2	37	c.619C>A	CCDS10285.1	.	.	.	.	.	.	.	.	.	.	.	6.390	0.439984	0.12104	.	.	ENSG00000182950	ENST00000332145	T	0.29397	1.57	4.68	4.68	0.58851	.	0.000000	0.53938	D	0.000053	T	0.27933	0.0688	L	0.28556	0.865	0.38162	D	0.93906	P	0.42735	0.788	P	0.48454	0.578	T	0.03344	-1.1046	10	0.07990	T	0.79	-10.9097	13.4461	0.61142	0.0:1.0:0.0:0.0	.	207	Q8IXM7	OD3L1_HUMAN	T	207	ENSP00000329584:P207T	ENSP00000329584:P207T	P	+	1	0	ODF3L1	73806730	0.976000	0.34144	0.146000	0.22360	0.007000	0.05969	3.676000	0.54612	2.317000	0.78254	0.561000	0.74099	CCT		0.632	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286473.1	NM_175881		20	63	1	0	8.34094e-07	1	8.70359e-07	20	63				
NT5C3B	115024	broad.mit.edu	37	17	39983815	39983815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:39983815C>A	ENST00000435506.2	-	8	700	c.631G>T	c.(631-633)Gag>Tag	p.E211*	NT5C3B_ENST00000269534.8_Nonsense_Mutation_p.E203*|NT5C3B_ENST00000521789.1_Intron			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	211					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CCAGAGTTCTCACACGCAGAG	0.502																																						ENST00000269534.8																			0											c.(607-609)Gag>Tag		5'-nucleotidase, cytosolic IIIB							175.0	168.0	170.0					17																	39983815		2203	4300	6503	SO:0001587	stop_gained	115024							g.chr17:39983815C>A		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.631G>T	17.37:g.39983815C>A	ENSP00000389948:p.Glu211*					NT5C3B_ENST00000435506.2_Nonsense_Mutation_p.E211*|NT5C3B_ENST00000521789.1_Intron	p.E203*	NM_052935.4	NP_443167.4					8	708	-								A8MWB9|C9JKC4|Q7L3B7	Nonsense_Mutation	SNP	ENST00000435506.2	37	c.607G>T	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821150	0.50633	.	.	ENSG00000141698	ENST00000269534;ENST00000393911;ENST00000435506;ENST00000415460	.	.	.	5.07	1.98	0.26296	.	0.412136	0.28322	N	0.015776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-1.2685	4.4308	0.11525	0.0:0.3892:0.2978:0.313	.	.	.	.	X	203;245;211;181	.	ENSP00000269534:E203X	E	-	1	0	NT5C3L	37237341	0.051000	0.20477	0.307000	0.25127	0.737000	0.42083	0.001000	0.13038	0.306000	0.22856	0.462000	0.41574	GAG		0.502	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935		68	28	1	0	5.41809e-49	1	6.5017e-49	68	28				
CDK14	5218	broad.mit.edu	37	7	90528663	90528663	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:90528663G>A	ENST00000380050.3	+	7	828	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	CDK14_ENST00000265741.3_Missense_Mutation_p.V215M|CDK14_ENST00000406263.1_Missense_Mutation_p.V187M|CDK14_ENST00000436577.2_Missense_Mutation_p.V104M			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCCAGATAATGTGAAGGTAGG	0.358																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(559-561)Gtg>Atg		cyclin-dependent kinase 14							77.0	78.0	78.0					7																	90528663		2203	4299	6502	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90528663G>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.697G>A	7.37:g.90528663G>A	ENSP00000369390:p.Val233Met					CDK14_ENST00000380050.3_Missense_Mutation_p.V233M|CDK14_ENST00000436577.2_Missense_Mutation_p.V104M|CDK14_ENST00000265741.3_Missense_Mutation_p.V215M	p.V187M			O94921	CDK14_HUMAN			6	1001	+			233			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.559G>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.126060	0.77436	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.79094	0.4388	L	0.55990	1.75	0.52099	D	0.999948	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.992;0.987;0.992	T	0.81113	-0.1080	10	0.87932	D	0	-14.1054	18.2888	0.90122	0.0:0.0:1.0:0.0	.	104;215;233	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	M	233;215;187;104	ENSP00000369390:V233M;ENSP00000265741:V215M;ENSP00000385034:V187M;ENSP00000398936:V104M	ENSP00000265741:V215M	V	+	1	0	CDK14	90366599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.350000	0.79385	2.632000	0.89209	0.650000	0.86243	GTG		0.358	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		4	10	0	0	0	1	0	4	10				
MADD	8567	broad.mit.edu	37	11	47310955	47310955	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:47310955G>A	ENST00000311027.5	+	17	2892	c.2727G>A	c.(2725-2727)gcG>gcA	p.A909A	MADD_ENST00000407859.3_Silent_p.A866A|MADD_ENST00000402799.1_Silent_p.A846A|MADD_ENST00000406482.1_Silent_p.A846A|MADD_ENST00000342922.4_Silent_p.A889A|MADD_ENST00000402192.2_Silent_p.A889A|MADD_ENST00000349238.3_Silent_p.A909A|MADD_ENST00000395344.3_Silent_p.A846A|MADD_ENST00000395336.3_Silent_p.A909A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACAGGAGGGCGTTAGTGGATC	0.488																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(2665-2667)gcG>gcA		MAP-kinase activating death domain							236.0	224.0	228.0					11																	47310955		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47310955G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2727G>A	11.37:g.47310955G>A						MADD_ENST00000407859.3_Silent_p.A866A|MADD_ENST00000406482.1_Silent_p.A846A|MADD_ENST00000349238.3_Silent_p.A909A|MADD_ENST00000402799.1_Silent_p.A846A|MADD_ENST00000402192.2_Silent_p.A889A|MADD_ENST00000395336.3_Silent_p.A909A|MADD_ENST00000395344.3_Silent_p.A846A|MADD_ENST00000311027.5_Silent_p.A909A	p.A889A	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	16	3024	+			909						Silent	SNP	ENST00000311027.5	37	c.2667G>A	CCDS7930.1																																																																																				0.488	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			5	392	0	0	0	1	0	5	392				
CWC27	10283	broad.mit.edu	37	5	64077858	64077858	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:64077858A>G	ENST00000381070.3	+	3	467	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	CWC27_ENST00000508024.1_Missense_Mutation_p.K84E	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	84	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCGCCATTCAAAGTAAGACT	0.363																																						ENST00000508024.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(250-252)Aaa>Gaa		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							56.0	55.0	55.0					5																	64077858		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64077858A>G	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.250A>G	5.37:g.64077858A>G	ENSP00000370460:p.Lys84Glu					CWC27_ENST00000381070.3_Missense_Mutation_p.K84E	p.K84E			Q6UX04	CWC27_HUMAN			3	451	+			84			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.250A>G	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972232	0.74246	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.21734	1.99;1.99	5.65	5.65	0.86999	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.089513	0.85682	D	0.000000	T	0.24470	0.0593	N	0.10945	0.07	0.58432	D	0.999997	B;B;D;D	0.65815	0.11;0.062;0.981;0.995	B;B;P;D	0.63113	0.037;0.033;0.771;0.911	T	0.14839	-1.0458	10	0.20046	T	0.44	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	84;84;84;84	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	E	84	ENSP00000370460:K84E;ENSP00000426802:K84E	ENSP00000370460:K84E	K	+	1	0	CWC27	64113614	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.548000	0.90669	2.371000	0.80710	0.533000	0.62120	AAA		0.363	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		11	18	0	0	0	1	0	11	18				
MAGEL2	54551	broad.mit.edu	37	15	23890308	23890308	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:23890308G>C	ENST00000532292.1	-	1	867	c.773C>G	c.(772-774)gCc>gGc	p.A258G		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	141					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCCTGGGGGGCAGCTGCTGT	0.632																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(772-774)gCc>gGc		MAGE-like 2							39.0	47.0	44.0					15																	23890308		2146	4269	6415	SO:0001583	missense	54551							g.chr15:23890308G>C	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.773C>G	15.37:g.23890308G>C	ENSP00000433433:p.Ala258Gly						p.A258G	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	867	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.773C>G		.	.	.	.	.	.	.	.	.	.	G	8.902	0.956586	0.18507	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.21	-0.816	0.10839	.	.	.	.	.	T	0.21631	0.0521	N	0.24115	0.695	0.20196	N	0.999924	.	.	.	.	.	.	T	0.28364	-1.0046	5	.	.	.	.	5.4977	0.16811	0.3334:0.137:0.5295:0.0	.	.	.	.	A	290	.	.	P	-	1	0	MAGEL2	21441401	0.001000	0.12720	0.014000	0.15608	0.617000	0.37484	0.210000	0.17455	-0.133000	0.11537	-0.133000	0.14855	CCC		0.632	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		18	63	0	0	0	1	0	18	63				
DSCAM	1826	broad.mit.edu	37	21	41741077	41741077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr21:41741077G>A	ENST00000400454.1	-	4	1081	c.604C>T	c.(604-606)Cga>Tga	p.R202*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	202	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGGTGTATCGATGCCGCGTG	0.428																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(604-606)Cga>Tga		Down syndrome cell adhesion molecule							103.0	104.0	104.0					21																	41741077		1971	4152	6123	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741077G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.604C>T	21.37:g.41741077G>A	ENSP00000383303:p.Arg202*						p.R202*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			4	1081	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	202			Ig-like C2-type 2.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.604C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	41	8.734148	0.98933	.	.	ENSG00000171587	ENST00000400454	.	.	.	6.07	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2273	0.59922	0.0:0.0:0.2775:0.7225	.	.	.	.	X	202	.	ENSP00000383303:R202X	R	-	1	2	DSCAM	40662947	1.000000	0.71417	0.998000	0.56505	0.539000	0.34962	4.425000	0.59875	0.539000	0.28788	-0.262000	0.10625	CGA		0.428	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		15	27	0	0	0	1	0	15	27				
ZNF225	7768	broad.mit.edu	37	19	44635586	44635586	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:44635586C>T	ENST00000262894.6	+	5	1099	c.819C>T	c.(817-819)tcC>tcT	p.S273S	ZNF225_ENST00000590612.1_Silent_p.S273S|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTCATGATTCCCAGCTTCAGG	0.393																																						ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(817-819)tcC>tcT		zinc finger protein 225							87.0	93.0	91.0					19																	44635586		2201	4299	6500	SO:0001819	synonymous_variant	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635586C>T	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.819C>T	19.37:g.44635586C>T						ZNF225_ENST00000590612.1_Silent_p.S273S|ZNF225_ENST00000592780.1_3'UTR	p.S273S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	1099	+		Prostate(69;0.0352)|all_neural(266;0.202)	273					A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	ENST00000262894.6	37	c.819C>T	CCDS46100.1																																																																																				0.393	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			56	104	0	0	0	1	0	56	104				
PCDH15	65217	broad.mit.edu	37	10	55582950	55582950	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:55582950T>A	ENST00000320301.6	-	33	4930	c.4536A>T	c.(4534-4536)aaA>aaT	p.K1512N	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1509N|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1514N|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1489N|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1443N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1472N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1512					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)				GAAATGTGAATTTTCTTGCAG	0.373										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4540-4542)aaA>aaT		protocadherin-related 15							91.0	93.0	92.0					10																	55582950		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.chr10:55582950T>A	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.4536A>T	10.37:g.55582950T>A	ENSP00000322604:p.Lys1512Asn	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1509N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.K1512N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1443N|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1489N|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1472N	p.K1514N	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	4936	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1512					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4542A>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	4.863	0.160471	0.09287	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.65364	0.64;0.6;0.63;0.62;0.63;-0.15	5.91	-0.985	0.10256	.	.	.	.	.	T	0.34513	0.0900	N	0.15975	0.35	0.09310	N	0.999998	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.08055	0.002;0.001;0.001;0.001;0.003;0.001;0.002;0.001	T	0.19910	-1.0291	9	0.09843	T	0.71	.	4.0861	0.09948	0.0949:0.1663:0.5176:0.2212	.	1489;1512;1514;1519;1443;1472;1509;1512	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	N	1472;1514;1489;1512;1509;1519;1443	ENSP00000378820:K1472N;ENSP00000354950:K1514N;ENSP00000378821:K1489N;ENSP00000322604:K1512N;ENSP00000378818:K1509N;ENSP00000412628:K1443N	ENSP00000322604:K1512N	K	-	3	2	PCDH15	55252956	1.000000	0.71417	0.012000	0.15200	0.360000	0.29518	1.402000	0.34600	-0.131000	0.11578	0.528000	0.53228	AAA		0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	40	0	0	0	1	0	23	40				
SLC22A16	85413	broad.mit.edu	37	6	110777855	110777855	+	Missense_Mutation	SNP	G	G	A	rs555935869	byFrequency	TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:110777855G>A	ENST00000368919.3	-	2	485	c.419C>T	c.(418-420)gCg>gTg	p.A140V	SLC22A16_ENST00000439654.1_Missense_Mutation_p.A140V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.A106V|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.A140V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	140					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CTGGGTCACCGCAGTGCTTTT	0.478													G|||	8	0.00159744	0.0	0.0	5008	,	,		19814	0.0		0.0	False		,,,				2504	0.0082					ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(418-420)gCg>gTg		solute carrier family 22 (organic cation/carnitine transporter), member 16							145.0	130.0	135.0					6																	110777855		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110777855G>A		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.419C>T	6.37:g.110777855G>A	ENSP00000357915:p.Ala140Val					SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.A140V|SLC22A16_ENST00000456137.2_Missense_Mutation_p.A140V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.A106V	p.A140V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	485	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	140					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.419C>T	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	6.416	0.444933	0.12164	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.69	2.33	0.28932	Major facilitator superfamily domain (1);	0.293880	0.33092	N	0.005292	T	0.22166	0.0534	N	0.01686	-0.76	0.30364	N	0.783573	B;B	0.16802	0.019;0.004	B;B	0.13407	0.009;0.005	T	0.22103	-1.0226	10	0.07644	T	0.81	.	7.9979	0.30280	0.8282:0.0:0.1718:0.0	.	140;106	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	V	140;57;106;140;97;140;97	ENSP00000357915:A140V;ENSP00000395642:A57V;ENSP00000328583:A106V;ENSP00000408799:A140V;ENSP00000416310:A97V;ENSP00000402111:A140V;ENSP00000401007:A97V	ENSP00000328583:A106V	A	-	2	0	SLC22A16	110884548	1.000000	0.71417	0.851000	0.33527	0.433000	0.31745	4.810000	0.62598	0.198000	0.20407	-0.471000	0.05019	GCG		0.478	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		4	100	0	0	0	1	0	4	100				
NUAK2	81788	broad.mit.edu	37	1	205272827	205272827	+	Missense_Mutation	SNP	G	G	T	rs376539362		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:205272827G>T	ENST00000367157.3	-	7	1764	c.1638C>A	c.(1636-1638)gaC>gaA	p.D546E		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACAGGATGCTGTCCTCGCTCA	0.687																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(1636-1638)gaC>gaA		NUAK family, SNF1-like kinase, 2							25.0	31.0	29.0					1																	205272827		2198	4290	6488	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272827G>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1638C>A	1.37:g.205272827G>T	ENSP00000356125:p.Asp546Glu						p.D546E	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1764	-	Breast(84;0.186)		546						Missense_Mutation	SNP	ENST00000367157.3	37	c.1638C>A	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320728	0.60634	.	.	ENSG00000163545	ENST00000367157	T	0.79653	-1.29	4.83	3.9	0.45041	.	0.141093	0.32503	N	0.006019	T	0.72661	0.3488	L	0.45137	1.4	0.41759	D	0.989703	P	0.42409	0.779	B	0.43301	0.415	T	0.68070	-0.5506	10	0.31617	T	0.26	.	6.7355	0.23407	0.0834:0.0:0.5999:0.3167	.	546	Q9H093	NUAK2_HUMAN	E	546	ENSP00000356125:D546E	ENSP00000356125:D546E	D	-	3	2	NUAK2	203539450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.625000	0.46452	0.999000	0.39023	0.400000	0.26472	GAC		0.687	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		23	66	1	0	1.64293e-13	1	1.82337e-13	23	66				
TRPC3	7222	broad.mit.edu	37	4	122824075	122824075	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:122824075A>G	ENST00000379645.3	-	9	2468	c.2395T>C	c.(2395-2397)Ttt>Ctt	p.F799L	TRPC3_ENST00000264811.5_Missense_Mutation_p.F726L|TRPC3_ENST00000513531.1_Missense_Mutation_p.F671L	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	714					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATTTGGGAAAGTTAACAATT	0.368																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2176-2178)Ttt>Ctt		transient receptor potential cation channel, subfamily C, member 3							124.0	117.0	120.0					4																	122824075		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122824075A>G	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2395T>C	4.37:g.122824075A>G	ENSP00000368966:p.Phe799Leu					TRPC3_ENST00000513531.1_Missense_Mutation_p.F671L|TRPC3_ENST00000379645.3_Missense_Mutation_p.F799L	p.F726L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			8	2594	-			714					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.2176T>C	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	3.638	-0.074110	0.07184	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.79141	-1.24;-1.24;-1.24	5.9	4.73	0.59995	.	0.287086	0.36002	N	0.002845	T	0.43100	0.1232	N	0.00473	-1.45	0.40520	D	0.980828	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45833	-0.9234	10	0.07175	T	0.84	-12.0075	11.6055	0.51029	0.9313:0.0:0.0686:0.0	.	714;671;799	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	L	726;799;671	ENSP00000264811:F726L;ENSP00000368966:F799L;ENSP00000426899:F671L	ENSP00000264811:F726L	F	-	1	0	TRPC3	123043525	1.000000	0.71417	0.997000	0.53966	0.648000	0.38561	3.217000	0.51184	1.072000	0.40860	0.528000	0.53228	TTT		0.368	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		3	48	0	0	0	1	0	3	48				
RRAS	6237	broad.mit.edu	37	19	50139087	50139087	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:50139087G>A	ENST00000246792.3	-	5	578	c.476C>T	c.(475-477)gCc>gTc	p.A159V		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	159					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGCGCCGAAGGCAGAGGCTTC	0.657																																						ENST00000246792.3																			0				endometrium(1)|kidney(1)|lung(2)|ovary(2)	6						c.(475-477)gCc>gTc		related RAS viral (r-ras) oncogene homolog							23.0	26.0	25.0					19																	50139087		2202	4299	6501	SO:0001583	missense	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50139087G>A		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.476C>T	19.37:g.50139087G>A	ENSP00000246792:p.Ala159Val						p.A159V	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	5	578	-			159					Q6FH12	Missense_Mutation	SNP	ENST00000246792.3	37	c.476C>T	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	G	6.388	0.439660	0.12104	.	.	ENSG00000126458	ENST00000246792	T	0.78481	-1.18	4.94	2.69	0.31865	Small GTP-binding protein domain (1);	0.579437	0.16042	N	0.232383	T	0.77336	0.4115	M	0.85462	2.755	0.09310	N	1	B	0.22211	0.066	B	0.17722	0.019	T	0.68667	-0.5348	10	0.49607	T	0.09	.	8.9138	0.35570	0.0:0.1635:0.6669:0.1696	.	159	P10301	RRAS_HUMAN	V	159	ENSP00000246792:A159V	ENSP00000246792:A159V	A	-	2	0	RRAS	54830899	0.848000	0.29623	0.000000	0.03702	0.024000	0.10985	1.346000	0.33964	0.605000	0.29947	0.561000	0.74099	GCC		0.657	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		19	28	0	0	0	1	0	19	28				
KCNT2	343450	broad.mit.edu	37	1	196274405	196274405	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:196274405C>A	ENST00000294725.9	-	22	3469	c.2554G>T	c.(2554-2556)Gcc>Tcc	p.A852S	KCNT2_ENST00000609185.1_Missense_Mutation_p.A778S|KCNT2_ENST00000367431.4_Missense_Mutation_p.A778S|KCNT2_ENST00000367433.5_Missense_Mutation_p.A828S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	852					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTCTTTGGCTCTGAATTGC	0.363																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2482-2484)Gcc>Tcc		potassium channel, subfamily T, member 2							133.0	123.0	127.0					1																	196274405		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196274405C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2554G>T	1.37:g.196274405C>A	ENSP00000294725:p.Ala852Ser					KCNT2_ENST00000294725.8_Missense_Mutation_p.A852S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.A778S	p.A828S			Q6UVM3	KCNT2_HUMAN			21	2583	-			852					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2482G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354443	0.82243	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.79653	-1.29;-1.29;-1.29	4.56	4.56	0.56223	.	0.000000	0.56097	D	0.000021	D	0.83170	0.5196	L	0.59436	1.845	0.80722	D	1	B;P;P;P;B	0.44946	0.365;0.846;0.498;0.846;0.365	B;P;B;P;B	0.50314	0.098;0.637;0.253;0.637;0.098	T	0.80979	-0.1140	10	0.27082	T	0.32	-10.5011	17.8797	0.88837	0.0:1.0:0.0:0.0	.	852;810;828;778;852	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	828;778;852	ENSP00000356403:A828S;ENSP00000356401:A778S;ENSP00000294725:A852S	ENSP00000294725:A852S	A	-	1	0	KCNT2	194541028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.525000	0.85131	0.650000	0.86243	GCC		0.363	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		5	48	1	0	0.014758	1	0.0148353	5	48				
ALPP	250	broad.mit.edu	37	2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:233245422C>T	ENST00000392027.2	+	8	1224	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	319					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCTGCCCTGCGCCTGCTGAG	0.632																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(955-957)Cgc>Tgc		alkaline phosphatase, placental							74.0	87.0	83.0					2																	233245422		2201	4298	6499	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245422C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.955C>T	2.37:g.233245422C>T	ENSP00000375881:p.Arg319Cys					AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	p.R319C	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	8	1224	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	319					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.955C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	6.741	0.505438	0.12822	.	.	ENSG00000163283	ENST00000392027	D	0.96200	-3.94	3.2	-0.594	0.11664	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.158180	0.06252	N	0.692336	D	0.95382	0.8501	M	0.93150	3.385	0.21933	N	0.999462	B	0.31581	0.329	B	0.25405	0.06	D	0.86899	0.2053	10	0.87932	D	0	.	6.4088	0.21680	0.4331:0.4747:0.0:0.0922	.	319	P05187	PPB1_HUMAN	C	319	ENSP00000375881:R319C	ENSP00000375881:R319C	R	+	1	0	ALPP	232953666	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.178000	0.09782	-0.021000	0.14009	0.305000	0.20034	CGC		0.632	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		11	35	0	0	0	1	0	11	35				
PCDH17	27253	broad.mit.edu	37	13	58207394	58207394	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr13:58207394C>A	ENST00000377918.3	+	1	740	c.714C>A	c.(712-714)gaC>gaA	p.D238E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACTCCAACGACAACAGCCCGG	0.597																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(712-714)gaC>gaA		protocadherin 17							71.0	60.0	64.0					13																	58207394		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207394C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.714C>A	13.37:g.58207394C>A	ENSP00000367151:p.Asp238Glu						p.D238E	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	740	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	238			Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.714C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504144	0.64410	.	.	ENSG00000118946	ENST00000377918	T	0.67171	-0.25	4.87	4.87	0.63330	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.043673	0.85682	D	0.000000	D	0.85779	0.5776	M	0.91920	3.255	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88823	0.3300	9	.	.	.	.	18.2082	0.89861	0.0:1.0:0.0:0.0	.	238;238	O14917-2;O14917	.;PCD17_HUMAN	E	238	ENSP00000367151:D238E	.	D	+	3	2	PCDH17	57105395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.615000	0.36922	2.558000	0.86282	0.650000	0.86243	GAC		0.597	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		19	62	1	0	1.67942e-08	1	1.76201e-08	19	62				
APEH	327	broad.mit.edu	37	3	49723034	49723034	+	IGR	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:49723034C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.R461H	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCACCGCAGCGTCGCAGGGC	0.602																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1381-1383)cGc>cAc		macrophage stimulating 1 (hepatocyte growth factor-like)							35.0	36.0	36.0					3																	49723034		2203	4299	6502	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723034C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723034C>T						MST1_ENST00000383728.3_3'UTR	p.R461H	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1743	-			447					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1382G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024453	0.54683	.	.	ENSG00000173531	ENST00000449682	D	0.92911	-3.13	5.29	3.44	0.39384	.	0.177856	0.27266	N	0.020142	D	0.92903	0.7742	M	0.62209	1.925	0.80722	D	1	D	0.63880	0.993	P	0.59288	0.855	D	0.91768	0.5425	10	0.56958	D	0.05	.	7.4342	0.27145	0.0:0.5339:0.3625:0.1035	.	461	G3XAK1	.	H	461	ENSP00000414287:R461H	ENSP00000414287:R461H	R	-	2	0	MST1	49698038	1.000000	0.71417	0.955000	0.39395	0.101000	0.19017	3.428000	0.52792	1.221000	0.43506	0.655000	0.94253	CGC		0.602	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			15	36	0	0	0	1	0	15	36				
GDF6	392255	broad.mit.edu	37	8	97172889	97172889	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:97172889A>T	ENST00000287020.5	-	1	131	c.32T>A	c.(31-33)gTc>gAc	p.V11D		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	11					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GATGAGGAAGACGGCCGAGAG	0.667																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(31-33)gTc>gAc		growth differentiation factor 6							39.0	45.0	43.0					8																	97172889		2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97172889A>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.32T>A	8.37:g.97172889A>T	ENSP00000287020:p.Val11Asp						p.V11D	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			1	131	-	Breast(36;2.67e-05)		11					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.32T>A	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860872	0.51482	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	D	0.81659	-1.52	3.69	3.69	0.42338	.	1.545230	0.04205	N	0.330640	T	0.65688	0.2715	N	0.08118	0	0.40525	D	0.980879	P	0.37864	0.61	B	0.31869	0.137	T	0.58211	-0.7676	10	0.87932	D	0	.	9.961	0.41697	1.0:0.0:0.0:0.0	.	11	Q6KF10	GDF6_HUMAN	D	11	ENSP00000287020:V11D	ENSP00000287020:V11D	V	-	2	0	GDF6	97242065	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.403000	0.34612	1.530000	0.49136	0.421000	0.28195	GTC		0.667	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		27	97	0	0	0	1	0	27	97				
VWCE	220001	broad.mit.edu	37	11	61026510	61026510	+	Silent	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:61026510T>C	ENST00000335613.5	-	20	2891	c.2505A>G	c.(2503-2505)ccA>ccG	p.P835P	VWCE_ENST00000535710.1_Silent_p.P300P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	835	Pro-rich.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGGCTCCCCTGGGAAAGTGG	0.597																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2503-2505)ccA>ccG		von Willebrand factor C and EGF domains							42.0	47.0	45.0					11																	61026510		2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61026510T>C	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2505A>G	11.37:g.61026510T>C						VWCE_ENST00000535710.1_Silent_p.P300P	p.P835P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			20	2891	-			835			Pro-rich.		A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.2505A>G	CCDS8002.1																																																																																				0.597	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		38	56	0	0	0	1	0	38	56				
PCDHA3	56145	broad.mit.edu	37	5	140182141	140182141	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:140182141G>A	ENST00000522353.2	+	1	1359	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.P453P|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCGCCGGCATTCTCGC	0.662																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1357-1359)ccG>ccA									98.0	98.0	98.0					5																	140182141		2203	4300	6503	SO:0001819	synonymous_variant	56145							g.chr5:140182141G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1359G>A	5.37:g.140182141G>A						PCDHA3_ENST00000532566.2_Silent_p.P453P|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P453P	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1359	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1359G>A	CCDS54915.1																																																																																				0.662	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	165	0	0	0	1	0	4	165				
GCC2	9648	broad.mit.edu	37	2	109098191	109098191	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:109098191G>A	ENST00000309863.6	+	10	3813	c.3099G>A	c.(3097-3099)ctG>ctA	p.L1033L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1033					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CAGAGCAACTGGATGTGGAAA	0.303																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3097-3099)ctG>ctA		GRIP and coiled-coil domain containing 2							49.0	55.0	53.0					2																	109098191		2203	4298	6501	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109098191G>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3099G>A	2.37:g.109098191G>A							p.L1033L	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			10	3813	+			1033					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.3099G>A	CCDS33268.1																																																																																				0.303	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		10	37	0	0	0	1	0	10	37				
RALGAPA1	253959	broad.mit.edu	37	14	36192435	36192435	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:36192435A>T	ENST00000389698.3	-	15	2292	c.1902T>A	c.(1900-1902)aaT>aaA	p.N634K	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.N634K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.N634K|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.N634K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	634					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGATGTACACATTTAGGTTTG	0.393																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1900-1902)aaT>aaA		Ral GTPase activating protein, alpha subunit 1 (catalytic)							48.0	45.0	46.0					14																	36192435		2203	4299	6502	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36192435A>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1902T>A	14.37:g.36192435A>T	ENSP00000374348:p.Asn634Lys					RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.N634K|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.N634K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.N634K	p.N634K			Q6GYQ0	RGPA1_HUMAN			15	2292	-			634					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.1902T>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447456	0.43429	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.94330	-3.4;-3.4;-3.38;-3.4;-3.38	5.45	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.92224	0.7534	L	0.45581	1.43	0.47584	D	0.999469	D;P;B;P;P	0.55385	0.971;0.952;0.087;0.551;0.704	P;P;B;P;B	0.53035	0.716;0.524;0.155;0.457;0.165	D	0.89020	0.3434	10	0.26408	T	0.33	-20.6643	9.8041	0.40781	0.8564:0.0:0.1436:0.0	.	634;634;634;634;634	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	K	634	ENSP00000374348:N634K;ENSP00000302647:N634K;ENSP00000258840:N634K;ENSP00000371803:N634K;ENSP00000451877:N634K	ENSP00000258840:N634K	N	-	3	2	RALGAPA1	35262186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.236000	0.32683	0.924000	0.37069	0.482000	0.46254	AAT		0.393	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		13	33	0	0	0	1	0	13	33				
B3GAT3	26229	broad.mit.edu	37	11	62384203	62384203	+	Silent	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:62384203G>T	ENST00000265471.5	-	4	911	c.684C>A	c.(682-684)ggC>ggA	p.G228G	B3GAT3_ENST00000531383.1_Silent_p.G228G|B3GAT3_ENST00000534026.1_Silent_p.G228G	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	228					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GTACCTGAGGGCCCTCGAATC	0.652																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(682-684)ggC>ggA		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							34.0	35.0	35.0					11																	62384203		2202	4299	6501	SO:0001819	synonymous_variant	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62384203G>T	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.684C>A	11.37:g.62384203G>T						B3GAT3_ENST00000534026.1_Silent_p.G228G|B3GAT3_ENST00000265471.5_Silent_p.G228G	p.G228G			O94766	B3GA3_HUMAN			4	890	-			228					B7ZAB3|Q96I06|Q9UEP0	Silent	SNP	ENST00000265471.5	37	c.684C>A	CCDS8025.1																																																																																				0.652	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		12	48	1	0	7.03913e-09	1	7.46692e-09	12	48				
POSTN	10631	broad.mit.edu	37	13	38164636	38164636	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr13:38164636A>T	ENST00000379747.4	-	4	431	c.314T>A	c.(313-315)cTg>cAg	p.L105Q	POSTN_ENST00000379742.4_Missense_Mutation_p.L105Q|POSTN_ENST00000541481.1_Missense_Mutation_p.L105Q|POSTN_ENST00000379743.4_Missense_Mutation_p.L105Q|POSTN_ENST00000379749.4_Missense_Mutation_p.L105Q|POSTN_ENST00000541179.1_Missense_Mutation_p.L105Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	105	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CACGATGCCCAGAGTGCCATA	0.438																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(313-315)cTg>cAg		periostin, osteoblast specific factor							91.0	82.0	85.0					13																	38164636		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38164636A>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.314T>A	13.37:g.38164636A>T	ENSP00000369071:p.Leu105Gln					POSTN_ENST00000541481.1_Missense_Mutation_p.L105Q|POSTN_ENST00000379742.4_Missense_Mutation_p.L105Q|POSTN_ENST00000379743.4_Missense_Mutation_p.L105Q|POSTN_ENST00000379749.4_Missense_Mutation_p.L105Q|POSTN_ENST00000541179.1_Missense_Mutation_p.L105Q	p.L105Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	4	431	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	105			FAS1 1.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.314T>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572404	0.86542	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01;-4.01	5.36	5.36	0.76844	FAS1 domain (2);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.85299	2.745	0.58432	D	0.99999	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;0.999;0.999;0.999;0.997;1.0;0.999	D	0.98755	1.0722	10	0.54805	T	0.06	.	15.3597	0.74460	1.0:0.0:0.0:0.0	.	105;105;105;105;105;105;105	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	Q	105;105;105;105;105;105;22	ENSP00000437959:L105Q;ENSP00000369073:L105Q;ENSP00000369071:L105Q;ENSP00000369067:L105Q;ENSP00000369066:L105Q;ENSP00000437953:L105Q	ENSP00000369066:L105Q	L	-	2	0	POSTN	37062636	1.000000	0.71417	0.963000	0.40424	0.885000	0.51271	8.962000	0.93254	2.036000	0.60181	0.528000	0.53228	CTG		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		19	9	0	0	0	1	0	19	9				
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:102213947A>T	ENST00000520347.1	-	2	2979	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	8							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393																																						ENST00000520347.1																			0				large_intestine(1)|ovary(2)	3						c.(22-24)aTt>aAt		zinc finger protein 706							91.0	82.0	85.0					8																	102213947		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213947A>T	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.23T>A	8.37:g.102213947A>T	ENSP00000430823:p.Ile8Asn					ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N	p.I8N			Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		2	2979	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		8					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.23T>A	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895185	0.72639	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	5.39	0.77823	.	0.098661	0.64402	D	0.000002	T	0.46927	0.1418	.	.	.	0.80722	D	1	P	0.45569	0.861	B	0.36567	0.228	T	0.55798	-0.8084	8	0.87932	D	0	-7.7891	15.4421	0.75190	1.0:0.0:0.0:0.0	.	8	Q9Y5V0	ZN706_HUMAN	N	8	.	ENSP00000311768:I8N	I	-	2	0	ZNF706	102283123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.054000	0.61138	0.533000	0.62120	ATT		0.393	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096		9	78	0	0	0	1	0	9	78				
ZNF845	91664	broad.mit.edu	37	19	53855241	53855241	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:53855241C>T	ENST00000595091.1	+	5	1532	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	ZNF845_ENST00000458035.1_Missense_Mutation_p.P438L			Q96IR2	ZN845_HUMAN	zinc finger protein 845	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAGAGAAACCTTACAAATGT	0.378																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1312-1314)cCt>cTt		zinc finger protein 845							25.0	24.0	25.0					19																	53855241		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855241C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1313C>T	19.37:g.53855241C>T	ENSP00000470005:p.Pro438Leu					ZNF845_ENST00000595091.1_Missense_Mutation_p.P438L	p.P438L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1430	+			438						Missense_Mutation	SNP	ENST00000595091.1	37	c.1313C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857737	0.32791	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.17054	2.3	1.9	1.9	0.25705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38374	0.1038	M	0.82193	2.58	0.37948	D	0.932555	D	0.89917	1.0	D	0.81914	0.995	T	0.38394	-0.9663	9	0.66056	D	0.02	.	6.2909	0.21059	0.0:0.8298:0.0:0.1702	.	438	Q96IR2	ZN845_HUMAN	L	438	ENSP00000388311:P438L	ENSP00000412086:P438L	P	+	2	0	ZNF845	58547053	0.953000	0.32496	0.214000	0.23707	0.275000	0.26752	3.354000	0.52254	1.037000	0.40024	0.411000	0.27672	CCT		0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		34	96	0	0	0	1	0	34	96				
CACNA1D	776	broad.mit.edu	37	3	53781384	53781384	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:53781384C>T	ENST00000350061.5	+	26	3734	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1075W|CACNA1D_ENST00000540742.1_5'Flank|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1095W	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1075	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTCCGTGAACGGATCTGGCA	0.517																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3283-3285)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						197.0	177.0	184.0					3																	53781384		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53781384C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3223C>T	3.37:g.53781384C>T	ENSP00000288133:p.Arg1075Trp					CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1075W|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1075W	p.R1095W	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	27	3401	+			1075			Dihydropyridine binding (By similarity).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3283C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925220	0.73213	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.91	3.56	0.40772	Ion transport (1);	0.321599	0.26935	N	0.021758	D	0.99462	0.9809	H	0.98594	4.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.99;1.0;1.0	D	0.98366	1.0551	10	0.87932	D	0	.	12.9522	0.58407	0.5458:0.4542:0.0:0.0	.	1075;768;1075;1095	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	W	1075;1095;1075;768	ENSP00000288133:R1075W;ENSP00000288139:R1095W;ENSP00000409174:R1075W;ENSP00000418014:R768W	ENSP00000288139:R1095W	R	+	1	2	CACNA1D	53756424	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.605000	0.36815	0.505000	0.28104	0.655000	0.94253	CGG		0.517	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		23	72	0	0	0	1	0	23	72				
SCN3A	6328	broad.mit.edu	37	2	166020938	166020938	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:166020938G>A	ENST00000360093.3	-	6	1057	c.566C>T	c.(565-567)cCa>cTa	p.P189L	SCN3A_ENST00000409101.3_Missense_Mutation_p.P189L|SCN3A_ENST00000283254.7_Missense_Mutation_p.P189L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	189					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGTTCCATGGATCACGAAG	0.378																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(565-567)cCa>cTa		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						79.0	80.0	80.0					2																	166020938		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020938G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.566C>T	2.37:g.166020938G>A	ENSP00000353206:p.Pro189Leu					SCN3A_ENST00000283254.7_Missense_Mutation_p.P189L|SCN3A_ENST00000409101.3_Missense_Mutation_p.P189L	p.P189L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			6	1057	-			189					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.566C>T		.	.	.	.	.	.	.	.	.	.	G	26.8	4.772258	0.90108	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	5.89	5.89	0.94794	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.98960	0.9646	M	0.79258	2.445	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.871;0.998;1.0	D;D;P;D;D	0.91635	0.999;0.991;0.765;0.958;0.998	D	0.99787	1.1030	10	0.72032	D	0.01	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	189;189;189;189;189	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	L	189	ENSP00000353206:P189L;ENSP00000283254:P189L;ENSP00000386726:P189L;ENSP00000403348:P189L;ENSP00000391569:P189L	ENSP00000283254:P189L	P	-	2	0	SCN3A	165729184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.865000	0.99609	2.810000	0.96702	0.586000	0.80456	CCA		0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		14	38	0	0	0	1	0	14	38				
CDCA7L	55536	broad.mit.edu	37	7	21956456	21956456	+	Silent	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:21956456A>G	ENST00000406877.3	-	2	360	c.81T>C	c.(79-81)gtT>gtC	p.V27V	CDCA7L_ENST00000356195.5_5'UTR|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Silent_p.V27V	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	27					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTCGGAAGCCAACAAACTCTT	0.463																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(79-81)gtT>gtC		cell division cycle associated 7-like							186.0	182.0	184.0					7																	21956456		2203	4300	6503	SO:0001819	synonymous_variant	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21956456A>G		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.81T>C	7.37:g.21956456A>G						CDCA7L_ENST00000356195.5_5'UTR|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Silent_p.V27V	p.V27V	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			2	360	-			27					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	ENST00000406877.3	37	c.81T>C	CCDS5374.1																																																																																				0.463	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		29	231	0	0	0	1	0	29	231				
PRR23C	389152	broad.mit.edu	37	3	138762753	138762753	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:138762753G>A	ENST00000413199.1	-	1	981	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PRR23C_ENST00000502927.2_Missense_Mutation_p.P237L|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	237	Pro-rich.									breast(2)|lung(7)|skin(2)	11						ACCTGGACTCGGAGAGGGAGG	0.627																																						ENST00000413199.1																			0				breast(2)|lung(7)|skin(2)	11						c.(709-711)cCg>cTg		proline rich 23C							44.0	48.0	47.0					3																	138762753		692	1591	2283	SO:0001583	missense	389152							g.chr3:138762753G>A		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.710C>T	3.37:g.138762753G>A	ENSP00000396648:p.Pro237Leu					MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.P237L	p.P237L	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN			1	981	-			237			Pro-rich.			Missense_Mutation	SNP	ENST00000413199.1	37	c.710C>T	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335124	0.24253	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.3	2.43	0.29744	.	0.000000	0.41823	D	0.000820	T	0.29652	0.0740	M	0.68593	2.085	0.21841	N	0.999515	P	0.46784	0.884	B	0.36989	0.238	T	0.25467	-1.0131	9	0.49607	T	0.09	.	6.7566	0.23518	0.1305:0.0:0.8695:0.0	.	237	Q6ZRP0	PR23C_HUMAN	L	237	.	ENSP00000396648:P237L	P	-	2	0	PRR23C	140245443	0.970000	0.33590	0.277000	0.24703	0.032000	0.12392	1.967000	0.40491	0.974000	0.38366	-0.463000	0.05309	CCG		0.627	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		5	14	0	0	0	1	0	5	14				
DCAF5	8816	broad.mit.edu	37	14	69521673	69521673	+	Missense_Mutation	SNP	C	C	T	rs369685131		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:69521673C>T	ENST00000341516.5	-	9	1877	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000554215.1_Missense_Mutation_p.R495H|DCAF5_ENST00000556847.1_Missense_Mutation_p.R495H|DCAF5_ENST00000557386.1_Missense_Mutation_p.R576H	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	577					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AGAGGCTCGGCGTTCATTCAG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16448	0.0		0.0	False		,,,				2504	0.0					ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1729-1731)cGc>cAc		DDB1 and CUL4 associated factor 5		C	HIS/ARG	0,4406		0,0,2203	83.0	82.0	83.0		1730	4.4	0.1	14		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCAF5	NM_003861.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	577/943	69521673	1,13005	2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69521673C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1730G>A	14.37:g.69521673C>T	ENSP00000341351:p.Arg577His					DCAF5_ENST00000556847.1_Missense_Mutation_p.R495H|DCAF5_ENST00000557386.1_Missense_Mutation_p.R576H|DCAF5_ENST00000554215.1_Missense_Mutation_p.R495H	p.R577H	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	1877	-			577					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1730G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356451	0.61293	0.0	1.16E-4	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	D;D;D;T	0.83335	-1.71;-1.6;-1.6;-1.16	5.27	4.38	0.52667	.	0.064895	0.64402	D	0.000006	T	0.76069	0.3936	L	0.34521	1.04	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.12837	0.008;0.003	T	0.72649	-0.4229	10	0.72032	D	0.01	-4.1374	14.0554	0.64764	0.0:0.927:0.0:0.073	.	576;577	G3V4J7;Q96JK2	.;DCAF5_HUMAN	H	577;495;495;576	ENSP00000341351:R577H;ENSP00000451551:R495H;ENSP00000452052:R495H;ENSP00000451845:R576H	ENSP00000341351:R577H	R	-	2	0	DCAF5	68591426	0.998000	0.40836	0.141000	0.22245	0.988000	0.76386	5.088000	0.64486	1.206000	0.43276	0.561000	0.74099	CGC		0.582	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		10	108	0	0	0	1	0	10	108				
LIG1	3978	broad.mit.edu	37	19	48637295	48637295	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:48637295G>A	ENST00000263274.7	-	17	1971	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	LIG1_ENST00000427526.2_Missense_Mutation_p.P487S|LIG1_ENST00000536218.1_Missense_Mutation_p.P450S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	518					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCAGCACGGGGATAATTCGG	0.632								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(1552-1554)Ccc>Tcc	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						21.0	21.0	21.0					19																	48637295		2190	4271	6461	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48637295G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1552C>T	19.37:g.48637295G>A	ENSP00000263274:p.Pro518Ser					LIG1_ENST00000536218.1_Missense_Mutation_p.P450S|LIG1_ENST00000427526.2_Missense_Mutation_p.P487S	p.P518S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	17	1971	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	518					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1552C>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912722	0.72983	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.20738	2.05;2.05;2.05	5.07	5.07	0.68467	DNA ligase, ATP-dependent, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.56769	1.78	0.80722	D	1	B;P;B	0.44241	0.205;0.829;0.24	B;B;B	0.35240	0.027;0.198;0.028	T	0.04825	-1.0924	10	0.49607	T	0.09	-16.2024	16.306	0.82848	0.0:0.0:1.0:0.0	.	487;450;518	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	S	518;549;487;450	ENSP00000263274:P518S;ENSP00000442841:P487S;ENSP00000441531:P450S	ENSP00000263274:P518S	P	-	1	0	LIG1	53329107	1.000000	0.71417	0.705000	0.30386	0.976000	0.68499	8.096000	0.89537	2.529000	0.85273	0.655000	0.94253	CCC		0.632	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		3	1	0	0	0	1	0	3	1				
ZNF483	158399	broad.mit.edu	37	9	114304133	114304133	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:114304133C>T	ENST00000309235.5	+	6	1076	c.918C>T	c.(916-918)ccC>ccT	p.P306P	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATAAAAGCCCCTTTGGACATA	0.393																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(916-918)ccC>ccT		zinc finger protein 483							87.0	97.0	94.0					9																	114304133		2203	4300	6503	SO:0001819	synonymous_variant	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304133C>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.918C>T	9.37:g.114304133C>T						ZNF483_ENST00000358151.4_Intron	p.P306P	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1076	+			306					Q5VZN2|Q8NAE1	Silent	SNP	ENST00000309235.5	37	c.918C>T	CCDS35106.1																																																																																				0.393	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		56	162	0	0	0	1	0	56	162				
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	C	rs397516437|rs28934573		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:7577559G>C	ENST00000269305.4	-	7	911	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.S241C|TP53_ENST00000420246.2_Missense_Mutation_p.S241C|TP53_ENST00000455263.2_Missense_Mutation_p.S241C|TP53_ENST00000445888.2_Missense_Mutation_p.S241C|TP53_ENST00000359597.4_Missense_Mutation_p.S241C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tGc	Other conserved DNA damage response genes	tumor protein p53							139.0	108.0	118.0					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>G	17.37:g.7577559G>C	ENSP00000269305:p.Ser241Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.S241C|TP53_ENST00000455263.2_Missense_Mutation_p.S241C|TP53_ENST00000359597.4_Missense_Mutation_p.S241C|TP53_ENST00000269305.4_Missense_Mutation_p.S241C|TP53_ENST00000413465.2_Missense_Mutation_p.S241C	p.S241C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276619	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.51233	D	0.999916	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;0.999	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241C;ENSP00000352610:S241C;ENSP00000269305:S241C;ENSP00000398846:S241C;ENSP00000391127:S241C;ENSP00000391478:S241C;ENSP00000425104:S109C;ENSP00000423862:S148C	ENSP00000269305:S241C	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		49	10	0	0	0	1	0	49	10				
ADK	132	broad.mit.edu	37	10	76360239	76360239	+	Missense_Mutation	SNP	A	A	G	rs541758866		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:76360239A>G	ENST00000286621.2	+	9	915	c.865A>G	c.(865-867)Ata>Gta	p.I289V	ADK_ENST00000541550.1_Missense_Mutation_p.I254V|ADK_ENST00000372734.3_Missense_Mutation_p.I272V|ADK_ENST00000539909.1_Missense_Mutation_p.I232V	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	289				I -> N (in Ref. 1; AA sequence). {ECO:0000305}.	adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	AGATGACACTATAATGGCTAC	0.348													A|||	1	0.000199681	0.0008	0.0	5008	,	,		10929	0.0		0.0	False		,,,				2504	0.0					ENST00000372734.3																			0				breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(814-816)Ata>Gta		adenosine kinase	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)						70.0	58.0	62.0					10																	76360239		2203	4300	6503	SO:0001583	missense	132				purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor	g.chr10:76360239A>G	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.865A>G	10.37:g.76360239A>G	ENSP00000286621:p.Ile289Val					ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000286621.2_Missense_Mutation_p.I289V|ADK_ENST00000541550.1_Missense_Mutation_p.I254V	p.I272V	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN			9	1001	+	Prostate(51;0.0112)|Ovarian(15;0.148)		289					B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	ENST00000286621.2	37	c.814A>G	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	A	0.962	-0.702964	0.03255	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	D;T;T;T	0.88046	-2.33;-1.06;-1.06;-1.06	5.48	1.98	0.26296	Carbohydrate/purine kinase (1);	0.285757	0.38778	N	0.001561	T	0.71341	0.3328	N	0.16833	0.445	0.34041	D	0.655018	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.11329	0.003;0.006;0.003;0.004	T	0.62120	-0.6921	10	0.06365	T	0.9	-6.3834	8.6521	0.34040	0.6935:0.0:0.3065:0.0	.	254;232;272;289	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	V	232;289;272;254	ENSP00000443965:I232V;ENSP00000286621:I289V;ENSP00000361819:I272V;ENSP00000438321:I254V	ENSP00000286621:I289V	I	+	1	0	ADK	76030245	0.412000	0.25392	0.481000	0.27354	0.992000	0.81027	0.894000	0.28350	0.392000	0.25172	0.460000	0.39030	ATA		0.348	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721		14	22	0	0	0	1	0	14	22				
LARP1B	55132	broad.mit.edu	37	4	129131155	129131155	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:129131155A>T	ENST00000326639.6	+	20	2903	c.2692A>T	c.(2692-2694)Ata>Tta	p.I898L	LARP1B_ENST00000264584.5_Missense_Mutation_p.I839L|LARP1B_ENST00000354456.3_Intron|LARP1B_ENST00000506199.1_Intron|LARP1B_ENST00000441387.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	898						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCAGGTACCAATAAACTCTCC	0.448																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2692-2694)Ata>Tta		La ribonucleoprotein domain family, member 1B							186.0	198.0	194.0					4																	129131155		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129131155A>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2692A>T	4.37:g.129131155A>T	ENSP00000321997:p.Ile898Leu					LARP1B_ENST00000354456.3_Intron|LARP1B_ENST00000264584.5_Missense_Mutation_p.I839L|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000506199.1_Intron	p.I898L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			20	2903	+			898					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.2692A>T	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	A	8.717	0.913495	0.17907	.	.	ENSG00000138709	ENST00000326639;ENST00000264584	T;T	0.03553	3.89;3.89	4.97	-1.01	0.10169	.	0.428256	0.25622	N	0.029420	T	0.02533	0.0077	N	0.22421	0.69	0.09310	N	1	B;B	0.19706	0.038;0.002	B;B	0.15870	0.014;0.002	T	0.44019	-0.9355	10	0.27785	T	0.31	.	10.2794	0.43530	0.5273:0.0:0.4727:0.0	.	108;898	Q659C4-8;Q659C4	.;LAR1B_HUMAN	L	898;839	ENSP00000321997:I898L;ENSP00000264584:I839L	ENSP00000264584:I839L	I	+	1	0	LARP1B	129350605	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	0.011000	0.13264	-0.296000	0.08947	0.459000	0.35465	ATA		0.448	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		35	325	0	0	0	1	0	35	325				
PLA2G4C	8605	broad.mit.edu	37	19	48608635	48608635	+	Silent	SNP	A	A	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:48608635A>C	ENST00000599921.1	-	3	432	c.75T>G	c.(73-75)ctT>ctG	p.L25L	PLA2G4C_ENST00000354276.3_Silent_p.L25L|PLA2G4C_ENST00000599111.1_Silent_p.L35L|PLA2G4C_ENST00000413144.2_Silent_p.L25L			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	25	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCAGCACATGAAGTCTTCGTC	0.517																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(73-75)ctT>ctG		phospholipase A2, group IVC (cytosolic, calcium-independent)							119.0	129.0	126.0					19																	48608635		2203	4300	6503	SO:0001819	synonymous_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48608635A>C	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.75T>G	19.37:g.48608635A>C						PLA2G4C_ENST00000599111.1_Silent_p.L35L|PLA2G4C_ENST00000599921.1_Silent_p.L25L|PLA2G4C_ENST00000413144.2_Silent_p.L25L	p.L25L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	3	402	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	25			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	c.75T>G	CCDS12710.1																																																																																				0.517	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			97	96	0	0	0	1	0	97	96				
POU4F2	5458	broad.mit.edu	37	4	147561255	147561255	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:147561255C>T	ENST00000281321.3	+	2	773	c.525C>T	c.(523-525)caC>caT	p.H175H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	175	Poly-His.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					accaccaccaccatcaccacc	0.682																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(523-525)caC>caT		POU class 4 homeobox 2							48.0	49.0	49.0					4																	147561255		2203	4299	6502	SO:0001819	synonymous_variant	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561255C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.525C>T	4.37:g.147561255C>T							p.H175H	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	773	+	all_hematologic(180;0.151)		175			Poly-His.		B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.525C>T	CCDS34074.1																																																																																				0.682	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		3	28	0	0	0	1	0	3	28				
CYFIP1	23191	broad.mit.edu	37	15	22947044	22947044	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:22947044G>A	ENST00000313077.7	+	13	1442	c.1317G>A	c.(1315-1317)acG>acA	p.T439T	CYFIP1_ENST00000560848.1_Silent_p.T439T	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGCGTGCCACGCGCTACAACT	0.572																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1315-1317)acG>acA		cytoplasmic FMR1 interacting protein 1							144.0	121.0	129.0					15																	22947044		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22947044G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1317G>A	15.37:g.22947044G>A						CYFIP1_ENST00000560848.1_Silent_p.T439T	p.T439T	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	13	1442	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	439						Silent	SNP	ENST00000313077.7	37	c.1317G>A	CCDS10009.1																																																																																				0.572	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		19	128	0	0	0	1	0	19	128				
CDCA2	157313	broad.mit.edu	37	8	25319725	25319725	+	Splice_Site	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:25319725G>T	ENST00000330560.3	+	4	864		c.e4+1		CDCA2_ENST00000380665.3_Splice_Site	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2						mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCCTTCCCAGGTATGATTTTC	0.413																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.e4+1		cell division cycle associated 2							70.0	74.0	73.0					8																	25319725		2203	4300	6503	SO:0001630	splice_region_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25319725G>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.387+1G>T	8.37:g.25319725G>T						CDCA2_ENST00000380665.3_Splice_Site		NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	4	864	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)						Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Splice_Site	SNP	ENST00000330560.3	37		CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452994	0.26161	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6823	0.69026	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDCA2	25375642	1.000000	0.71417	0.972000	0.41901	0.210000	0.24377	4.315000	0.59172	2.520000	0.84964	0.313000	0.20887	.		0.413	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	Intron	10	30	1	0	1.11149e-13	1	1.24073e-13	10	30				
PCDH1	5097	broad.mit.edu	37	5	141243498	141243498	+	Missense_Mutation	SNP	G	G	T	rs538786315		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:141243498G>T	ENST00000394536.3	-	3	2537	c.2398C>A	c.(2398-2400)Ccc>Acc	p.P800T	PCDH1_ENST00000536585.1_Missense_Mutation_p.P778T|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Missense_Mutation_p.P800T|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.P788T	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	800	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TAGCGTGGGGGCTTGCCGCGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18790	0.001		0.0	False		,,,				2504	0.0				Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(2398-2400)Ccc>Acc		protocadherin 1							47.0	46.0	46.0					5																	141243498		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243498G>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2398C>A	5.37:g.141243498G>T	ENSP00000378043:p.Pro800Thr					PCDH1_ENST00000456271.1_Missense_Mutation_p.P788T|PCDH1_ENST00000536585.1_Missense_Mutation_p.P778T|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.P800T	p.P800T	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2545	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	800			Cadherin 7.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.2398C>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.935557	0.52866	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000145	T	0.79782	0.4505	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85377	0.1117	10	0.87932	D	0	.	16.2953	0.82767	0.0:0.0:1.0:0.0	.	800;800	Q08174;Q08174-2	PCDH1_HUMAN;.	T	800;800;788;811;778	ENSP00000287008:P800T;ENSP00000378043:P800T;ENSP00000403497:P788T;ENSP00000350122:P811T;ENSP00000438825:P778T	ENSP00000287008:P800T	P	-	1	0	PCDH1	141223682	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.832000	0.86757	2.445000	0.82738	0.457000	0.33378	CCC		0.617	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		36	42	1	0	3.86903e-22	1	4.55738e-22	36	42				
OR2W1	26692	broad.mit.edu	37	6	29012233	29012233	+	Silent	SNP	G	G	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:29012233G>C	ENST00000377175.1	-	1	784	c.720C>G	c.(718-720)acC>acG	p.T240T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GAGATCCACAGGTATTCATTG	0.438																																						ENST00000377175.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						c.(718-720)acC>acG		olfactory receptor, family 2, subfamily W, member 1							163.0	154.0	157.0					6																	29012233		1511	2709	4220	SO:0001819	synonymous_variant	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012233G>C	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.720C>G	6.37:g.29012233G>C							p.T240T	NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN			1	784	-			240					B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	c.720C>G	CCDS4656.1																																																																																				0.438	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			35	123	0	0	0	1	0	35	123				
PLCB1	23236	broad.mit.edu	37	20	8717816	8717816	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:8717816G>C	ENST00000338037.6	+	20	2212	c.2185G>C	c.(2185-2187)Gaa>Caa	p.E729Q	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.E729Q|PLCB1_ENST00000378637.2_Missense_Mutation_p.E729Q	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	729	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCTGGGAAGAAGAACCTAT	0.378																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(2185-2187)Gaa>Caa		phospholipase C, beta 1 (phosphoinositide-specific)							117.0	107.0	110.0					20																	8717816		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8717816G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2185G>C	20.37:g.8717816G>C	ENSP00000338185:p.Glu729Gln					PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E729Q|PLCB1_ENST00000378637.2_Missense_Mutation_p.E729Q	p.E729Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			20	2660	+			729			C2.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2185G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955086	0.92726	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.77712	2.385	0.80722	D	1	P;D	0.71674	0.881;0.998	P;D	0.69479	0.692;0.964	T	0.44772	-0.9306	10	0.48119	T	0.1	.	19.6011	0.95561	0.0:0.0:1.0:0.0	.	729;729	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	Q	729;729;729;649;649;75;48	ENSP00000367908:E729Q;ENSP00000338185:E729Q;ENSP00000367904:E729Q;ENSP00000391162:E48Q	ENSP00000338185:E729Q	E	+	1	0	PLCB1	8665816	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.703000	0.92315	0.557000	0.71058	GAA		0.378	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			15	92	0	0	0	1	0	15	92				
NCKAP5L	57701	broad.mit.edu	37	12	50189159	50189159	+	Silent	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:50189159A>T	ENST00000335999.6	-	8	2685	c.2484T>A	c.(2482-2484)ccT>ccA	p.P828P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	824	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCCAGGTCGAGGCACCACCT	0.627																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2482-2484)ccT>ccA		NCK-associated protein 5-like							69.0	73.0	72.0					12																	50189159		1952	4134	6086	SO:0001819	synonymous_variant	57701							g.chr12:50189159A>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2484T>A	12.37:g.50189159A>T							p.P828P	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	2685	-			824			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2484T>A	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	A	0.230	-1.021580	0.02061	.	.	ENSG00000167566	ENST00000433948	.	.	.	4.47	2.57	0.30868	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41142	-0.9525	4	.	.	.	-5.5897	4.5927	0.12315	0.1919:0.0:0.6315:0.1766	.	.	.	.	T	543	.	.	S	-	1	0	NCKAP5L	48475426	1.000000	0.71417	0.284000	0.24805	0.314000	0.28054	0.692000	0.25482	0.572000	0.29383	-0.366000	0.07423	TCG		0.627	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		20	59	0	0	0	1	0	20	59				
MYOCD	93649	broad.mit.edu	37	17	12647528	12647528	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:12647528G>A	ENST00000343344.4	+	8	746	c.746G>A	c.(745-747)cGc>cAc	p.R249H	AC005358.1_ENST00000609971.1_Missense_Mutation_p.R153H|MYOCD_ENST00000425538.1_Missense_Mutation_p.R249H|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	249					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGTAAGAACCGCCACAAAAAG	0.473																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(745-747)cGc>cAc		myocardin							88.0	83.0	85.0					17																	12647528		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647528G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.746G>A	17.37:g.12647528G>A	ENSP00000341835:p.Arg249His					MYOCD_ENST00000395988.1_Missense_Mutation_p.R153H|MYOCD_ENST00000343344.4_Missense_Mutation_p.R249H	p.R249H	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	946	+			249					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.746G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147952	0.94603	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.65732	-0.17	5.4	5.4	0.78164	.	0.057437	0.64402	D	0.000003	D	0.82398	0.5028	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.85308	0.1077	10	0.72032	D	0.01	-20.0974	17.9352	0.89010	0.0:0.0:1.0:0.0	.	153;249;249	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	H	249;249;153	ENSP00000341835:R249H	ENSP00000341835:R249H	R	+	2	0	MYOCD	12588253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.546000	0.85860	0.561000	0.74099	CGC		0.473	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		14	32	0	0	0	1	0	14	32				
ATP2A1	487	broad.mit.edu	37	16	28909738	28909738	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:28909738T>G	ENST00000357084.3	+	14	1997	c.1730T>G	c.(1729-1731)gTc>gGc	p.V577G	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V452G|ATP2A1_ENST00000395503.4_Missense_Mutation_p.V577G	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	577					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAGGAAATGGTCCTGGATGAC	0.642																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1729-1731)gTc>gGc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							27.0	30.0	29.0					16																	28909738		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909738T>G		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1730T>G	16.37:g.28909738T>G	ENSP00000349595:p.Val577Gly					ATP2A1_ENST00000357084.3_Missense_Mutation_p.V577G|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V452G	p.V577G	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			14	1914	+			577					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1730T>G	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	T	0.245	-1.010505	0.02095	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82619	-1.63;-1.63;-1.63	5.43	1.41	0.22369	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	0.990854	0.08199	N	0.982532	T	0.67069	0.2854	N	0.12182	0.205	0.09310	N	0.999996	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.16722	0.002;0.016;0.009	T	0.52631	-0.8550	10	0.27785	T	0.31	.	6.2334	0.20750	0.1254:0.1605:0.0:0.7142	.	452;577;577	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	G	577;577;614;452	ENSP00000349595:V577G;ENSP00000378879:V577G;ENSP00000443101:V452G	ENSP00000349595:V577G	V	+	2	0	ATP2A1	28817239	0.000000	0.05858	0.004000	0.12327	0.062000	0.15995	0.401000	0.20948	0.338000	0.23692	-0.290000	0.09829	GTC		0.642	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		20	36	0	0	0	1	0	20	36				
ADAM21	8747	broad.mit.edu	37	14	70925552	70925552	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:70925552T>A	ENST00000603540.1	+	2	1594	c.1336T>A	c.(1336-1338)Tgt>Agt	p.C446S	ADAM21_ENST00000267499.3_Missense_Mutation_p.C446S|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	446	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGGCTGCCTGTGCTTTTGG	0.498																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(1336-1338)Tgt>Agt		ADAM metallopeptidase domain 21							64.0	62.0	63.0					14																	70925552		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925552T>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1336T>A	14.37:g.70925552T>A	ENSP00000474385:p.Cys446Ser					RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.C446S	p.C446S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1594	+			446			Disintegrin.		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.1336T>A	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279657	0.59758	.	.	ENSG00000139985	ENST00000267499	T	0.51574	0.7	4.48	4.48	0.54585	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (6);	0.000000	0.48286	D	0.000192	D	0.82811	0.5118	H	0.99806	4.795	0.39649	D	0.970449	D	0.89917	1.0	D	0.97110	1.0	D	0.91143	0.4947	10	0.87932	D	0	.	14.226	0.65860	0.0:0.0:0.0:1.0	.	446	Q9UKJ8	ADA21_HUMAN	S	446	ENSP00000267499:C446S	ENSP00000267499:C446S	C	+	1	0	ADAM21	69995305	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	5.709000	0.68384	2.007000	0.58848	0.455000	0.32223	TGT		0.498	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			20	58	0	0	0	1	0	20	58				
NRG3	10718	broad.mit.edu	37	10	83635273	83635273	+	Silent	SNP	G	G	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr10:83635273G>C	ENST00000404547.1	+	1	177	c.177G>C	c.(175-177)gtG>gtC	p.V59V	NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Silent_p.V59V|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	59					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACTGCATCGTGTGGAACCGGC	0.711																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(175-177)gtG>gtC		neuregulin 3							57.0	41.0	46.0					10																	83635273		2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635273G>C	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.177G>C	10.37:g.83635273G>C						NRG3_ENST00000372141.2_Silent_p.V59V	p.V59V			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	177	+			59					A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.177G>C	CCDS31233.1																																																																																				0.711	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		8	11	0	0	0	1	0	8	11				
CT47B1	643311	broad.mit.edu	37	X	120008774	120008774	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:120008774A>T	ENST00000371311.3	-	1	1005	c.751T>A	c.(751-753)Tca>Aca	p.S251T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	251										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCTCCTCTGAGGTCGGTTCC	0.701																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(751-753)Tca>Aca		cancer/testis antigen family 47, member B1							34.0	33.0	33.0					X																	120008774		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008774A>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.751T>A	X.37:g.120008774A>T	ENSP00000360360:p.Ser251Thr						p.S251T	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	1005	-			251					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.751T>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.917247	0.00055	.	.	ENSG00000236446	ENST00000371311	.	.	.	0.109	-0.218	0.13142	.	.	.	.	.	T	0.08133	0.0203	N	0.02539	-0.55	0.09310	N	1	B	0.26445	0.149	B	0.12837	0.008	T	0.22208	-1.0223	7	0.12430	T	0.62	.	.	.	.	.	251	P0C2W7	CT47B_HUMAN	T	251	.	ENSP00000360360:S251T	S	-	1	0	CT47B1	119892802	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.404000	0.02494	-1.476000	0.01874	-1.511000	0.00944	TCA		0.701	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		106	29	0	0	0	1	0	106	29				
SEC23B	10483	broad.mit.edu	37	20	18523812	18523812	+	Missense_Mutation	SNP	G	G	A	rs565694146		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:18523812G>A	ENST00000336714.3	+	14	2093	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	SEC23B_ENST00000262544.2_Missense_Mutation_p.R554Q|SEC23B_ENST00000377465.1_Missense_Mutation_p.R554Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.R554Q|AL121893.1_ENST00000578930.1_RNA	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	554					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CAACTCATCCGACTGGTAAAT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		18236	0.0		0.0	False		,,,				2504	0.001					ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(1660-1662)cGa>cAa		Sec23 homolog B (S. cerevisiae)							95.0	96.0	96.0					20																	18523812		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18523812G>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1661G>A	20.37:g.18523812G>A	ENSP00000338844:p.Arg554Gln					SEC23B_ENST00000377465.1_Missense_Mutation_p.R554Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.R554Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.R554Q	p.R554Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			14	2093	+			554					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1661G>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320066	0.95682	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	4.4	4.4	0.53042	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.95408	0.8509	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.981	D	0.96319	0.9235	10	0.66056	D	0.02	-11.2122	16.1664	0.81759	0.0:0.0:1.0:0.0	.	536;554	B4DJW8;Q15437	.;SC23B_HUMAN	Q	554;554;554;554;62	ENSP00000338844:R554Q;ENSP00000262544:R554Q;ENSP00000366695:R554Q;ENSP00000366685:R554Q;ENSP00000409882:R62Q	ENSP00000262544:R554Q	R	+	2	0	SEC23B	18471812	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.623000	0.98386	2.285000	0.76669	0.655000	0.94253	CGA		0.507	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			97	80	0	0	0	1	0	97	80				
COL6A3	1293	broad.mit.edu	37	2	238285684	238285684	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:238285684C>T	ENST00000295550.4	-	7	3253	c.2801G>A	c.(2800-2802)aGc>aAc	p.S934N	COL6A3_ENST00000346358.4_Missense_Mutation_p.S734N|COL6A3_ENST00000472056.1_Missense_Mutation_p.S327N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S728N|COL6A3_ENST00000392004.3_Missense_Mutation_p.S728N|COL6A3_ENST00000392003.2_Missense_Mutation_p.S527N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S733N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S728N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	934	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGATCCGGCTGCCAGCAGA	0.542																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2800-2802)aGc>aAc		collagen, type VI, alpha 3							95.0	80.0	85.0					2																	238285684		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285684C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2801G>A	2.37:g.238285684C>T	ENSP00000295550:p.Ser934Asn					COL6A3_ENST00000392004.3_Missense_Mutation_p.S728N|COL6A3_ENST00000392003.2_Missense_Mutation_p.S527N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S733N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S728N|COL6A3_ENST00000472056.1_Missense_Mutation_p.S327N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S734N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S728N	p.S934N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3253	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	934			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2801G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276211	0.80580	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.55	5.55	0.83447	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.91257	0.7244	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.995;0.999;0.999;0.999	D	0.90385	0.4391	10	0.45353	T	0.12	.	19.4964	0.95075	0.0:1.0:0.0:0.0	.	734;327;527;728;728;934	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	N	934;733;728;327;728;734;728;527	ENSP00000295550:S934N;ENSP00000315609:S733N;ENSP00000315873:S728N;ENSP00000418285:S327N;ENSP00000386844:S728N;ENSP00000295546:S734N;ENSP00000375861:S728N;ENSP00000375860:S527N	ENSP00000295550:S934N	S	-	2	0	COL6A3	237950423	1.000000	0.71417	0.997000	0.53966	0.236000	0.25371	7.737000	0.84957	2.610000	0.88304	0.655000	0.94253	AGC		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		24	56	0	0	0	1	0	24	56				
ZFHX4	79776	broad.mit.edu	37	8	77616692	77616692	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:77616692C>T	ENST00000521891.2	+	2	817	c.369C>T	c.(367-369)gaC>gaT	p.D123D	ZFHX4_ENST00000518282.1_Silent_p.D123D|ZFHX4_ENST00000050961.6_Silent_p.D123D|ZFHX4_ENST00000455469.2_Silent_p.D123D|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGACAGTGACGTGGAAAATC	0.493										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(367-369)gaC>gaT		zinc finger homeobox 4							133.0	128.0	130.0					8																	77616692		1972	4170	6142	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616692C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.369C>T	8.37:g.77616692C>T		HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Silent_p.D123D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.D123D|ZFHX4_ENST00000455469.2_Silent_p.D123D	p.D123D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	817	+			123					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.369C>T	CCDS47878.2																																																																																				0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		65	47	0	0	0	1	0	65	47				
SOS2	6655	broad.mit.edu	37	14	50600867	50600867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:50600867G>A	ENST00000216373.5	-	19	3323	c.3049C>T	c.(3049-3051)Cga>Tga	p.R1017*	SOS2_ENST00000543680.1_Nonsense_Mutation_p.R984*	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1017	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTGCAGTTTCGAGGTTCAATT	0.323																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(3049-3051)Cga>Tga		son of sevenless homolog 2 (Drosophila)							125.0	134.0	131.0					14																	50600867		2203	4299	6502	SO:0001587	stop_gained	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50600867G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3049C>T	14.37:g.50600867G>A	ENSP00000216373:p.Arg1017*					SOS2_ENST00000543680.1_Nonsense_Mutation_p.R984*	p.R1017*	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			19	3323	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1017			Ras-GEF.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Nonsense_Mutation	SNP	ENST00000216373.5	37	c.3049C>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	40	8.008300	0.98607	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	.	.	.	5.37	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2861	0.60243	0.0:0.0:0.7115:0.2885	.	.	.	.	X	1017;984	.	ENSP00000216373:R1017X	R	-	1	2	SOS2	49670617	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.334000	0.59291	1.347000	0.45714	0.555000	0.69702	CGA		0.323	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			4	150	0	0	0	1	0	4	150				
USP44	84101	broad.mit.edu	37	12	95927582	95927582	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:95927582A>G	ENST00000258499.3	-	2	739	c.451T>C	c.(451-453)Tgg>Cgg	p.W151R	USP44_ENST00000537435.2_Missense_Mutation_p.W151R|USP44_ENST00000393091.2_Missense_Mutation_p.W151R|USP44_ENST00000552440.1_Missense_Mutation_p.W151R	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	151					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCCTGTGCCAAAGAGCAGTA	0.393																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(451-453)Tgg>Cgg		ubiquitin specific peptidase 44							125.0	119.0	121.0					12																	95927582		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95927582A>G	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.451T>C	12.37:g.95927582A>G	ENSP00000258499:p.Trp151Arg					USP44_ENST00000552440.1_Missense_Mutation_p.W151R|USP44_ENST00000537435.2_Missense_Mutation_p.W151R|USP44_ENST00000393091.2_Missense_Mutation_p.W151R	p.W151R	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			2	739	-			151					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.451T>C	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576083	0.28092	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435;ENST00000551837	T;T;T;T;T	0.46451	3.78;3.78;2.5;3.78;0.87	5.0	5.0	0.66597	.	0.056734	0.85682	D	0.000000	T	0.43500	0.1250	M	0.76574	2.34	0.80722	D	1	B	0.21753	0.06	B	0.21151	0.033	T	0.37197	-0.9716	10	0.16420	T	0.52	.	15.0053	0.71507	1.0:0.0:0.0:0.0	.	151	Q9H0E7	UBP44_HUMAN	R	151	ENSP00000258499:W151R;ENSP00000376806:W151R;ENSP00000448670:W151R;ENSP00000442629:W151R;ENSP00000448601:W151R	ENSP00000258499:W151R	W	-	1	0	USP44	94451713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.002000	0.58637	0.459000	0.35465	TGG		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		20	50	0	0	0	1	0	20	50				
KDM6B	23135	broad.mit.edu	37	17	7750719	7750719	+	Silent	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:7750719T>C	ENST00000448097.2	+	10	1537	c.1206T>C	c.(1204-1206)agT>agC	p.S402S	KDM6B_ENST00000254846.5_Silent_p.S402S			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	402	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						gcagcagcagtagcagcagca	0.657																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1204-1206)agT>agC		lysine (K)-specific demethylase 6B							42.0	50.0	48.0					17																	7750719		2203	4300	6503	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750719T>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1206T>C	17.37:g.7750719T>C						KDM6B_ENST00000448097.2_Silent_p.S402S	p.S402S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			10	1595	+			402			Pro-rich.		C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.1206T>C																																																																																					0.657	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		24	84	0	0	0	1	0	24	84				
SALL3	27164	broad.mit.edu	37	18	76755393	76755393	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr18:76755393G>A	ENST00000537592.2	+	2	3402	c.3402G>A	c.(3400-3402)acG>acA	p.T1134T	SALL3_ENST00000575389.2_Silent_p.T1062T|SALL3_ENST00000536229.3_Silent_p.T929T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1134					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATGAGCGCACGCACACCGGCG	0.682																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2785-2787)acG>acA		spalt-like transcription factor 3																																				SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76755393G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3402G>A	18.37:g.76755393G>A						SALL3_ENST00000537592.2_Silent_p.T1134T|SALL3_ENST00000575389.2_Silent_p.T1062T	p.T929T			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3496	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1134					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2787G>A	CCDS12013.1																																																																																				0.682	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		7	4	0	0	0	1	0	7	4				
SERPINA9	327657	broad.mit.edu	37	14	94929634	94929634	+	Splice_Site	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:94929634C>A	ENST00000380365.3	-	5	1129		c.e5-1		SERPINA9_ENST00000337425.5_Splice_Site|SERPINA9_ENST00000448305.2_Splice_Site|SERPINA9_ENST00000424550.2_Splice_Site|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Splice_Site			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGTGGGTTGCCTGCCAAGGGA	0.502																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.e5-1		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							83.0	84.0	84.0					14																	94929634		2081	4212	6293	SO:0001630	splice_region_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94929634C>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.1051-1G>T	14.37:g.94929634C>A						SERPINA9_ENST00000298845.7_Splice_Site|SERPINA9_ENST00000424550.2_Splice_Site|SERPINA9_ENST00000448305.2_Splice_Site|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000380365.3_Splice_Site		NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	5	1179	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)						B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Splice_Site	SNP	ENST00000380365.3	37			.	.	.	.	.	.	.	.	.	.	C	10.94	1.493058	0.26774	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365	.	.	.	4.21	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0071	0.41964	0.0:0.8322:0.0:0.1678	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINA9	93999387	1.000000	0.71417	0.256000	0.24389	0.017000	0.09413	4.996000	0.63914	0.546000	0.28920	-0.258000	0.10820	.		0.502	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739	Intron	32	26	1	0	1.08312e-15	1	1.23053e-15	32	26				
FYTTD1	84248	broad.mit.edu	37	3	197497115	197497115	+	Splice_Site	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:197497115A>G	ENST00000241502.4	+	4	719	c.497A>G	c.(496-498)aAa>aGa	p.K166R	FYTTD1_ENST00000415708.2_Splice_Site_p.K140R|FYTTD1_ENST00000424384.2_Splice_Site_p.K99R|FYTTD1_ENST00000428395.2_Splice_Site_p.K75R	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	166					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CTAAGCAGAAAGTAAGTGCTC	0.363																																						ENST00000428395.2																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.e5+1		forty-two-three domain containing 1							62.0	60.0	61.0					3																	197497115		2203	4300	6503	SO:0001630	splice_region_variant	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197497115A>G	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.497+1A>G	3.37:g.197497115A>G						FYTTD1_ENST00000415708.2_Splice_Site_p.K140_splice|FYTTD1_ENST00000241502.3_Splice_Site_p.K166_splice|FYTTD1_ENST00000424384.2_Splice_Site_p.K99_splice	p.K75_splice	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	5	657	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	166					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Splice_Site	SNP	ENST00000241502.4	37	c.224_splice	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	A	5.256	0.232608	0.09969	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.71	4.41	0.53225	.	0.192778	0.53938	D	0.000055	T	0.20618	0.0496	N	0.02802	-0.49	0.30674	N	0.753026	B;B	0.11235	0.004;0.004	B;B	0.12156	0.004;0.007	T	0.24621	-1.0155	10	0.07990	T	0.79	-21.6598	4.374	0.11262	0.7961:0.0:0.2039:0.0	.	140;166	Q96QD9-2;Q96QD9	.;UIF_HUMAN	R	99;140;75;166;99	ENSP00000399896:K99R;ENSP00000393746:K140R;ENSP00000391157:K75R;ENSP00000241502:K166R;ENSP00000394631:K99R	ENSP00000241502:K166R	K	+	2	0	FYTTD1	198981512	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.632000	0.54287	2.313000	0.78055	0.456000	0.33151	AAA		0.363	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288	Missense_Mutation	13	39	0	0	0	1	0	13	39				
CCNB3	85417	broad.mit.edu	37	X	50054268	50054268	+	Silent	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:50054268A>G	ENST00000376042.1	+	6	3397	c.3099A>G	c.(3097-3099)ttA>ttG	p.L1033L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L1033L|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1033					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CATTGGCCTTACAAGAGAGTC	0.478																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3097-3099)ttA>ttG		cyclin B3							108.0	93.0	98.0					X																	50054268		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054268A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3099A>G	X.37:g.50054268A>G						CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L1033L|CCNB3_ENST00000376038.1_Intron	p.L1033L			Q8WWL7	CCNB3_HUMAN			6	3397	+	Ovarian(276;0.236)		1033					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.3099A>G	CCDS14331.1																																																																																				0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			37	15	0	0	0	1	0	37	15				
ZNF835	90485	broad.mit.edu	37	19	57176562	57176562	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:57176562T>C	ENST00000537055.2	-	2	236	c.5A>G	c.(4-6)gAg>gGg	p.E2G		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAAGAGTCCCTCCATCCTCGA	0.498																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(4-6)gAg>gGg		zinc finger protein 835							60.0	61.0	60.0					19																	57176562		1947	4138	6085	SO:0001583	missense	90485							g.chr19:57176562T>C	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.5A>G	19.37:g.57176562T>C	ENSP00000444747:p.Glu2Gly						p.E2G	NM_001005850.2	NP_001005850.2					2	236	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.5A>G	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.840270	0.32513	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06687	3.27	2.28	-0.0675	0.13760	.	.	.	.	.	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	9	0.42905	T	0.14	.	6.4556	0.21928	0.0:0.0:0.5195:0.4805	.	24	Q9Y2P0	ZN835_HUMAN	G	24;2	ENSP00000444747:E2G	ENSP00000341756:E24G	E	-	2	0	ZNF835	61868374	0.000000	0.05858	0.002000	0.10522	0.498000	0.33706	-0.069000	0.11542	-0.089000	0.12484	0.459000	0.35465	GAG		0.498	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		12	45	0	0	0	1	0	12	45				
GRM3	2913	broad.mit.edu	37	7	86468447	86468447	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:86468447C>T	ENST00000361669.2	+	4	2716	c.1617C>T	c.(1615-1617)taC>taT	p.Y539Y	GRM3_ENST00000546348.1_Silent_p.Y131Y|GRM3_ENST00000536043.1_Silent_p.Y411Y|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	539					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCTACGAATACCTGGCTGATG	0.532																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1615-1617)taC>taT		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						156.0	138.0	144.0					7																	86468447		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468447C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1617C>T	7.37:g.86468447C>T						GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.Y131Y|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Silent_p.Y411Y	p.Y539Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	2716	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		539					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1617C>T	CCDS5600.1																																																																																				0.532	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			77	70	0	0	0	1	0	77	70				
TGFBI	7045	broad.mit.edu	37	5	135385250	135385250	+	Silent	SNP	C	C	T	rs556797846		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr5:135385250C>T	ENST00000442011.2	+	7	1055	c.894C>T	c.(892-894)ggC>ggT	p.G298G	TGFBI_ENST00000305126.8_Silent_p.G298G	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	298	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G298G(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTATCCTGGGCGACCCAGAAG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		21842	0.0		0.0	False		,,,				2504	0.001					ENST00000442011.2																			1	Substitution - coding silent(1)	p.G298G(1)	breast(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(892-894)ggC>ggT		transforming growth factor, beta-induced, 68kDa							48.0	51.0	50.0					5																	135385250		1986	4153	6139	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135385250C>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.894C>T	5.37:g.135385250C>T						TGFBI_ENST00000305126.8_Silent_p.G298G	p.G298G	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	1055	+			298			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.894C>T	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	1.652	-0.513697	0.04200	.	.	ENSG00000120708	ENST00000508767;ENST00000514554	.	.	.	5.94	-9.61	0.00550	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1155	2.142	0.03777	0.2352:0.3172:0.2968:0.1508	.	.	.	.	X	74;16	.	.	R	+	1	2	TGFBI	135413149	0.337000	0.24766	0.328000	0.25416	0.256000	0.26092	-0.362000	0.07602	-2.550000	0.00480	-2.630000	0.00154	CGA		0.542	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			3	24	0	0	0	1	0	3	24				
SMG8	55181	broad.mit.edu	37	17	57287809	57287809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:57287809C>T	ENST00000543872.2	+	2	661	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q133*|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Nonsense_Mutation_p.Q133*|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	133					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GGCAGGCTCCCAGGACTACAG	0.597																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(397-399)Cag>Tag		SMG8 nonsense mediated mRNA decay factor							43.0	42.0	43.0					17																	57287809		2203	4300	6503	SO:0001587	stop_gained	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57287809C>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.397C>T	17.37:g.57287809C>T	ENSP00000438748:p.Gln133*					SMG8_ENST00000578922.1_Nonsense_Mutation_p.Q133*|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q133*|CTD-2510F5.6_ENST00000577660.1_Intron	p.Q133*			Q8ND04	SMG8_HUMAN			2	661	+			133					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Nonsense_Mutation	SNP	ENST00000543872.2	37	c.397C>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558466	0.96514	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	.	.	.	5.57	5.57	0.84162	.	0.298098	0.32015	N	0.006702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-5.1608	14.4166	0.67155	0.1565:0.8435:0.0:0.0	.	.	.	.	X	133	.	ENSP00000300917:Q133X	Q	+	1	0	SMG8	54642591	0.922000	0.31269	0.989000	0.46669	0.909000	0.53808	1.928000	0.40104	2.780000	0.95670	0.655000	0.94253	CAG		0.597	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		4	38	0	0	0	1	0	4	38				
CYB5R4	51167	broad.mit.edu	37	6	84665107	84665107	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:84665107G>A	ENST00000369681.5	+	15	1577	c.1437G>A	c.(1435-1437)ttG>ttA	p.L479L		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	479					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTGAATTTTTGAAAAGAAATT	0.393																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1435-1437)ttG>ttA		cytochrome b5 reductase 4							80.0	79.0	79.0					6																	84665107		2203	4299	6502	SO:0001819	synonymous_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84665107G>A	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1437G>A	6.37:g.84665107G>A							p.L479L	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	15	1577	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	479					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	ENST00000369681.5	37	c.1437G>A	CCDS5000.2																																																																																				0.393	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		24	46	0	0	0	1	0	24	46				
UBE3A	7337	broad.mit.edu	37	15	25585277	25585277	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:25585277C>T	ENST00000397954.2	-	10	2461	c.2462G>A	c.(2461-2463)gGa>gAa	p.G821E	UBE3A_ENST00000232165.3_Missense_Mutation_p.G818E|UBE3A_ENST00000428984.2_Missense_Mutation_p.G798E|SNHG14_ENST00000452731.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.G798E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.G798E			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	821	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTTTAATTTTCCTAGTCCTCC	0.413																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(2452-2454)gGa>gAa		ubiquitin protein ligase E3A							134.0	125.0	128.0					15																	25585277		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25585277C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2462G>A	15.37:g.25585277C>T	ENSP00000381045:p.Gly821Glu					UBE3A_ENST00000428984.2_Missense_Mutation_p.G798E|UBE3A_ENST00000438097.1_Missense_Mutation_p.G798E|UBE3A_ENST00000566215.1_Missense_Mutation_p.G798E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.G821E	p.G818E	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	12	3109	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	821			HECT.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2453G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824385	0.90955	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.51	5.51	0.81932	HECT (4);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.35854	1.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70227	0.919;0.968	T	0.52480	-0.8570	10	0.10377	T	0.69	.	19.415	0.94690	0.0:1.0:0.0:0.0	.	818;821	Q05086-3;Q05086	.;UBE3A_HUMAN	E	818;818;821;798;798	ENSP00000232165:G818E;ENSP00000381045:G821E;ENSP00000411258:G798E;ENSP00000401265:G798E	ENSP00000232165:G818E	G	-	2	0	UBE3A	23136370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.569000	0.86673	0.591000	0.81541	GGA		0.413	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		15	61	0	0	0	1	0	15	61				
EHMT2	10919	broad.mit.edu	37	6	31856267	31856267	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:31856267G>A	ENST00000375537.4	-	12	1388	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	EHMT2_ENST00000395728.3_Missense_Mutation_p.A518V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.A484V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A427V	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	461					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGGATGGCGGCATTGCAGCC	0.662																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(1552-1554)gCc>gTc		euchromatic histone-lysine N-methyltransferase 2							32.0	30.0	31.0					6																	31856267		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31856267G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1382C>T	6.37:g.31856267G>A	ENSP00000364687:p.Ala461Val					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.A484V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A427V|EHMT2_ENST00000375537.4_Missense_Mutation_p.A461V	p.A518V			Q96KQ7	EHMT2_HUMAN			11	1552	-			461					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.1553C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	4.295	0.053932	0.08291	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70164	-0.46;-0.43;-0.37;-0.45	4.62	4.62	0.57501	.	0.172324	0.41712	D	0.000828	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B;B;B;B	0.29378	0.128;0.111;0.243;0.243	B;B;B;B	0.30716	0.073;0.088;0.119;0.063	T	0.09079	-1.0691	10	0.87932	D	0	.	7.9726	0.30136	0.0:0.1731:0.648:0.1789	.	484;427;461;275	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	V	518;484;427;461;275	ENSP00000379078:A518V;ENSP00000364678:A484V;ENSP00000364680:A427V;ENSP00000364687:A461V	ENSP00000364678:A484V	A	-	2	0	EHMT2	31964246	0.002000	0.14202	0.214000	0.23707	0.018000	0.09664	1.137000	0.31479	2.394000	0.81467	0.555000	0.69702	GCC		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		3	35	0	0	0	1	0	3	35				
LRRC55	219527	broad.mit.edu	37	11	56949990	56949990	+	Missense_Mutation	SNP	G	G	A	rs374511641		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:56949990G>A	ENST00000497933.1	+	1	770	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	178					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ATGCAGCTCCGAGACCTGGAC	0.647																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(622-624)cGa>cAa		leucine rich repeat containing 55		G	GLN/ARG	0,4402		0,0,2201	53.0	53.0	53.0		623	5.0	1.0	11		53	1,8591	1.2+/-3.3	0,1,4295	no	missense	LRRC55	NM_001005210.2	43	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	208/342	56949990	1,12993	2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949990G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.623G>A	11.37:g.56949990G>A	ENSP00000419542:p.Arg208Gln						p.R208Q	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	770	+			178					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.623G>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231992	0.39399	0.0	1.16E-4	ENSG00000183908	ENST00000497933	T	0.02472	4.28	5.91	5.0	0.66597	.	0.000000	0.49916	D	0.000126	T	0.03178	0.0093	N	0.21373	0.66	0.38744	D	0.95394	B	0.13145	0.007	B	0.26969	0.075	T	0.52124	-0.8617	10	0.33141	T	0.24	.	13.7982	0.63184	0.074:0.0:0.926:0.0	.	178	Q6ZSA7	LRC55_HUMAN	Q	208	ENSP00000419542:R208Q	ENSP00000419542:R208Q	R	+	2	0	LRRC55	56706566	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.657000	0.46724	1.504000	0.48704	0.655000	0.94253	CGA		0.647	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		27	99	0	0	0	1	0	27	99				
LAMC1	3915	broad.mit.edu	37	1	183094593	183094593	+	Silent	SNP	G	G	A	rs373706219		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:183094593G>A	ENST00000258341.4	+	15	2966	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	903	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CCGTGACGGGGCAGTGTGAAT	0.527																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2707-2709)ggG>ggA		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G		0,4406		0,0,2203	168.0	129.0	142.0		2709	1.4	1.0	1		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMC1	NM_002293.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		903/1610	183094593	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183094593G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2709G>A	1.37:g.183094593G>A						LAMC1_ENST00000466964.1_3'UTR	p.G903G	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			15	2966	+			903			Laminin EGF-like 9.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.2709G>A	CCDS1351.1																																																																																				0.527	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		61	46	0	0	0	1	0	61	46				
PIP5K1B	8395	broad.mit.edu	37	9	71491651	71491651	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:71491651G>A	ENST00000265382.3	+	6	564	c.259G>A	c.(259-261)Gct>Act	p.A87T	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.A87T	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	87	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAAGACATACGCTCCATTAGC	0.378																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(259-261)Gct>Act		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							122.0	122.0	122.0					9																	71491651		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71491651G>A	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.259G>A	9.37:g.71491651G>A	ENSP00000265382:p.Ala87Thr					PIP5K1B_ENST00000541509.1_Missense_Mutation_p.A87T	p.A87T	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	6	564	+			87			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.259G>A	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	36	5.846890	0.97016	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747;ENST00000377284;ENST00000437200;ENST00000440050	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.68	5.68	0.88126	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	H	0.95187	3.635	0.80722	D	1	D	0.69078	0.997	P	0.58130	0.833	T	0.77146	-0.2695	10	0.87932	D	0	-9.2405	19.7855	0.96434	0.0:0.0:1.0:0.0	.	87	O14986	PI51B_HUMAN	T	87;87;87;34;87;87;87	ENSP00000438082:A87T;ENSP00000265382:A87T;ENSP00000366498:A87T;ENSP00000398587:A87T;ENSP00000411477:A87T	ENSP00000265382:A87T	A	+	1	0	PIP5K1B	70681471	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.607000	0.98328	2.698000	0.92095	0.585000	0.79938	GCT		0.378	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		26	55	0	0	0	1	0	26	55				
RPGRIP1	57096	broad.mit.edu	37	14	21789467	21789467	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:21789467A>G	ENST00000400017.2	+	12	1517	c.1517A>G	c.(1516-1518)aAt>aGt	p.N506S	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.N479S|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.N506S|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.N479S|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.N148S	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	506					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGGTGCTAAATGAGTTGCAA	0.428																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1516-1518)aAt>aGt		retinitis pigmentosa GTPase regulator interacting protein 1							101.0	93.0	96.0					14																	21789467		1894	4118	6012	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21789467A>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1517A>G	14.37:g.21789467A>G	ENSP00000382895:p.Asn506Ser					RPGRIP1_ENST00000557771.1_Missense_Mutation_p.N479S|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.N479S|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.N506S|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.N148S	p.N506S			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	12	1517	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	506					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1517A>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	0.987	-0.695212	0.03303	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933	T;T;T;T;T	0.74002	0.03;-0.76;-0.8;-0.8;-0.32	5.12	-2.86	0.05717	.	0.677955	0.16405	N	0.215874	T	0.41190	0.1148	N	0.02247	-0.625	0.09310	N	1	B;B;B	0.18166	0.003;0.026;0.004	B;B;B	0.14578	0.003;0.011;0.002	T	0.40346	-0.9568	10	0.07644	T	0.81	-0.3374	11.5896	0.50939	0.7221:0.0:0.2779:0.0	.	148;122;506	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	S	479;479;506;506;148	ENSP00000450445:N479S;ENSP00000451219:N479S;ENSP00000382895:N506S;ENSP00000206660:N506S;ENSP00000372391:N148S	ENSP00000206660:N506S	N	+	2	0	RPGRIP1	20859307	0.247000	0.23920	0.013000	0.15412	0.356000	0.29392	0.180000	0.16860	-0.419000	0.07439	-0.417000	0.06048	AAT		0.428	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		17	23	0	0	0	1	0	17	23				
ALDH3B2	222	broad.mit.edu	37	11	67431139	67431139	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:67431139C>T	ENST00000349015.3	-	9	1405	c.967G>A	c.(967-969)Gga>Aga	p.G323R	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G323R	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	323					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CCACCGACTCCCCCGAATGGC	0.582																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(967-969)Gga>Aga		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						79.0	74.0	76.0					11																	67431139		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67431139C>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.967G>A	11.37:g.67431139C>T	ENSP00000255084:p.Gly323Arg					ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G323R	p.G323R	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			9	1405	-			323					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.967G>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826666	0.71143	.	.	ENSG00000132746	ENST00000530069;ENST00000349015	D;D	0.98876	-5.2;-5.2	3.71	2.79	0.32731	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	U	0.000000	D	0.99510	0.9825	H	0.99740	4.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97840	1.0268	10	0.87932	D	0	.	11.2355	0.48938	0.0:0.9068:0.0:0.0932	.	323	P48448	AL3B2_HUMAN	R	323	ENSP00000431595:G323R;ENSP00000255084:G323R	ENSP00000255084:G323R	G	-	1	0	ALDH3B2	67187715	0.998000	0.40836	0.310000	0.25168	0.017000	0.09413	4.279000	0.58953	0.891000	0.36235	0.561000	0.74099	GGA		0.582	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		7	42	0	0	0	1	0	7	42				
CDH7	1005	broad.mit.edu	37	18	63477029	63477029	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr18:63477029C>A	ENST00000397968.2	+	3	726	c.300C>A	c.(298-300)aaC>aaA	p.N100K	CDH7_ENST00000536984.2_Missense_Mutation_p.N100K|CDH7_ENST00000323011.3_Missense_Mutation_p.N100K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTGATGAGAACACTGGGGATA	0.483																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(298-300)aaC>aaA		cadherin 7, type 2							85.0	79.0	81.0					18																	63477029		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477029C>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.300C>A	18.37:g.63477029C>A	ENSP00000381058:p.Asn100Lys					CDH7_ENST00000323011.3_Missense_Mutation_p.N100K|CDH7_ENST00000397968.2_Missense_Mutation_p.N100K	p.N100K			Q9ULB5	CADH7_HUMAN			3	994	+		Esophageal squamous(42;0.129)	100			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.300C>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	6.926	0.540640	0.13250	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.51071	0.72;0.72;0.72	5.83	5.83	0.93111	Cadherin (5);Cadherin-like (1);	0.233984	0.44285	D	0.000473	T	0.26268	0.0641	N	0.20401	0.57	0.80722	D	1	B;P	0.47677	0.074;0.899	B;B	0.36989	0.045;0.238	T	0.26224	-1.0109	10	0.02654	T	1	.	13.349	0.60591	0.0:0.9284:0.0:0.0716	.	100;100	F5H5X9;Q9ULB5	.;CADH7_HUMAN	K	100	ENSP00000319166:N100K;ENSP00000443030:N100K;ENSP00000381058:N100K	ENSP00000319166:N100K	N	+	3	2	CDH7	61628009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.297000	0.33400	2.767000	0.95098	0.650000	0.86243	AAC		0.483	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		24	31	1	0	3.01185e-09	1	3.24874e-09	24	31				
ERBB2	2064	broad.mit.edu	37	17	37882904	37882904	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:37882904G>A	ENST00000269571.5	+	24	3121	c.2962G>A	c.(2962-2964)Gtc>Atc	p.V988I	ERBB2_ENST00000540147.1_Missense_Mutation_p.V958I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V712I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V988I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V958I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V958I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V973I|MIR4728_ENST00000580969.1_RNA|MIEN1_ENST00000474210.1_5'Flank			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	988					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCGCTTTGTGGTCATCCAGGT	0.602		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2872-2874)Gtc>Atc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						91.0	78.0	82.0					17																	37882904		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37882904G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2962G>A	17.37:g.37882904G>A	ENSP00000269571:p.Val988Ile	TCGA GBM(5;<1E-08)				ERBB2_ENST00000269571.5_Missense_Mutation_p.V988I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V958I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V973I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V958I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V988I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V712I	p.V958I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	26	3382	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	988			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2872G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983527	0.53827	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.29	4.33	0.51752	Protein kinase-like domain (1);	.	.	.	.	T	0.79896	0.4525	M	0.84511	2.7	0.80722	D	1	D;D;D	0.76494	0.987;0.999;0.987	P;D;P	0.80764	0.772;0.994;0.772	T	0.82884	-0.0236	9	0.72032	D	0.01	.	12.8613	0.57915	0.0797:0.0:0.9203:0.0	.	712;973;988	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	958;973;712;988;958	ENSP00000385185:V958I;ENSP00000446466:V973I;ENSP00000404047:V712I;ENSP00000269571:V988I;ENSP00000443562:V958I	ENSP00000269571:V988I	V	+	1	0	ERBB2	35136430	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.860000	0.99555	1.231000	0.43661	0.655000	0.94253	GTC		0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			7	56	0	0	0	1	0	7	56				
INPPL1	3636	broad.mit.edu	37	11	71946906	71946906	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:71946906C>T	ENST00000298229.2	+	25	2959	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S	INPPL1_ENST00000541756.1_Missense_Mutation_p.P677S|INPPL1_ENST00000538751.1_Missense_Mutation_p.P677S	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	919					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGCCGCAAGCCAGCCTTCAC	0.612																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2029-2031)Cca>Tca		inositol polyphosphate phosphatase-like 1							55.0	62.0	59.0					11																	71946906		2196	4277	6473	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71946906C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2755C>T	11.37:g.71946906C>T	ENSP00000298229:p.Pro919Ser					INPPL1_ENST00000298229.2_Missense_Mutation_p.P919S|INPPL1_ENST00000538751.1_Missense_Mutation_p.P677S	p.P677S			O15357	SHIP2_HUMAN			25	2959	+			919					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.2029C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	14.99	2.701581	0.48307	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.96396	-2.93;-4.0;-4.0	5.57	3.59	0.41128	.	0.229124	0.38164	N	0.001791	D	0.88672	0.6500	N	0.08118	0	0.36203	D	0.850855	B	0.11235	0.004	B	0.06405	0.002	D	0.84937	0.0863	10	0.20519	T	0.43	.	9.4824	0.38908	0.0:0.7767:0.1444:0.0789	.	919	O15357	SHIP2_HUMAN	S	919;677;677	ENSP00000298229:P919S;ENSP00000446360:P677S;ENSP00000444619:P677S	ENSP00000298229:P919S	P	+	1	0	INPPL1	71624554	0.954000	0.32549	1.000000	0.80357	0.979000	0.70002	1.627000	0.37050	1.355000	0.45865	0.561000	0.74099	CCA		0.612	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		4	81	0	0	0	1	0	4	81				
LPHN3	23284	broad.mit.edu	37	4	62598610	62598610	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:62598610G>C	ENST00000514591.1	+	7	862	c.533G>C	c.(532-534)aGa>aCa	p.R178T	LPHN3_ENST00000509896.1_Missense_Mutation_p.R246T|LPHN3_ENST00000508693.1_Missense_Mutation_p.R246T|LPHN3_ENST00000545650.1_Missense_Mutation_p.R178T|LPHN3_ENST00000507164.1_Missense_Mutation_p.R246T|LPHN3_ENST00000508946.1_Missense_Mutation_p.R178T|LPHN3_ENST00000507625.1_Missense_Mutation_p.R246T|LPHN3_ENST00000514996.1_Missense_Mutation_p.R178T|LPHN3_ENST00000511324.1_Missense_Mutation_p.R246T|LPHN3_ENST00000506746.1_Missense_Mutation_p.R246T|LPHN3_ENST00000506720.1_Missense_Mutation_p.R246T|LPHN3_ENST00000512091.2_Missense_Mutation_p.R178T|LPHN3_ENST00000514157.1_Missense_Mutation_p.R178T|LPHN3_ENST00000506700.1_Missense_Mutation_p.R178T|LPHN3_ENST00000504896.1_Missense_Mutation_p.R178T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	178	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACTCCCTACAGAACTGATACC	0.483																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(532-534)aGa>aCa		latrophilin 3							69.0	65.0	66.0					4																	62598610		1908	4125	6033	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598610G>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.533G>C	4.37:g.62598610G>C	ENSP00000422533:p.Arg178Thr					LPHN3_ENST00000514591.1_Missense_Mutation_p.R178T|LPHN3_ENST00000507164.1_Missense_Mutation_p.R246T|LPHN3_ENST00000514157.1_Missense_Mutation_p.R178T|LPHN3_ENST00000511324.1_Missense_Mutation_p.R246T|LPHN3_ENST00000506746.1_Missense_Mutation_p.R246T|LPHN3_ENST00000545650.1_Missense_Mutation_p.R178T|LPHN3_ENST00000506720.1_Missense_Mutation_p.R246T|LPHN3_ENST00000504896.1_Missense_Mutation_p.R178T|LPHN3_ENST00000507625.1_Missense_Mutation_p.R246T|LPHN3_ENST00000509896.1_Missense_Mutation_p.R246T|LPHN3_ENST00000514996.1_Missense_Mutation_p.R178T|LPHN3_ENST00000506700.1_Missense_Mutation_p.R178T|LPHN3_ENST00000508693.1_Missense_Mutation_p.R246T|LPHN3_ENST00000508946.1_Missense_Mutation_p.R178T	p.R178T			Q9HAR2	LPHN3_HUMAN			7	1280	+			178			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.533G>C	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905962	0.72868	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	M	0.75884	2.315	0.58432	D	0.999997	D;D;D	0.69078	0.997;0.997;0.981	D;D;D	0.80764	0.994;0.994;0.962	D	0.94703	0.7885	10	0.87932	D	0	.	18.1554	0.89689	0.0:0.0:1.0:0.0	.	178;246;178	E9PE04;E7EN28;Q9HAR2-2	.;.;.	T	178;178;246;246;178;178;178;178;178;246;246;246;178;178;178;246;246;178	ENSP00000423388:R178T;ENSP00000422533:R178T;ENSP00000423787:R246T;ENSP00000425033:R246T;ENSP00000424120:R178T;ENSP00000439831:R178T;ENSP00000421476:R246T;ENSP00000424030:R246T;ENSP00000421372:R246T;ENSP00000425201:R178T;ENSP00000423434:R178T;ENSP00000421627:R178T;ENSP00000420931:R246T;ENSP00000425884:R246T;ENSP00000424258:R178T	ENSP00000280009:R178T	R	+	2	0	LPHN3	62281205	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.546000	0.85860	0.557000	0.71058	AGA		0.483	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			15	43	0	0	0	1	0	15	43				
ACTN4	81	broad.mit.edu	37	19	39219731	39219731	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:39219731G>T	ENST00000252699.2	+	20	2590	c.2514G>T	c.(2512-2514)gaG>gaT	p.E838D	ACTN4_ENST00000424234.2_Missense_Mutation_p.E448D|ACTN4_ENST00000390009.3_Missense_Mutation_p.E619D|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	838	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCGCGGGAGACCACCGACA	0.612																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2512-2514)gaG>gaT		actinin, alpha 4							121.0	97.0	105.0					19																	39219731		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39219731G>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2514G>T	19.37:g.39219731G>T	ENSP00000252699:p.Glu838Asp					ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Missense_Mutation_p.E448D|ACTN4_ENST00000390009.3_Missense_Mutation_p.E619D	p.E838D	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2590	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		838			EF-hand 2.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.2514G>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818599	0.50633	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	3.62	1.44	0.22558	EF-hand-like domain (1);	0.068053	0.56097	D	0.000027	T	0.62804	0.2458	M	0.83692	2.655	0.42641	D	0.993417	B	0.14012	0.009	B	0.27796	0.083	T	0.60905	-0.7170	10	0.54805	T	0.06	.	8.5386	0.33379	0.1996:0.0:0.8004:0.0	.	838	O43707	ACTN4_HUMAN	D	838;448;619;269	ENSP00000252699:E838D;ENSP00000411187:E448D;ENSP00000439497:E619D;ENSP00000398393:E269D	ENSP00000252699:E838D	E	+	3	2	ACTN4	43911571	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.025000	0.41059	0.336000	0.23639	0.561000	0.74099	GAG		0.612	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			14	159	1	0	4.7546e-09	1	5.07158e-09	14	159				
XKR4	114786	broad.mit.edu	37	8	56015384	56015384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:56015384C>A	ENST00000327381.6	+	1	436	c.336C>A	c.(334-336)tgC>tgA	p.C112*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	112						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTGGGACTGCCTCTGGATCC	0.751																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(334-336)tgC>tgA		XK, Kell blood group complex subunit-related family, member 4							37.0	36.0	36.0					8																	56015384		2195	4296	6491	SO:0001587	stop_gained	114786					integral to membrane		g.chr8:56015384C>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.336C>A	8.37:g.56015384C>A	ENSP00000328326:p.Cys112*						p.C112*	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	436	+			112					Q96PZ8	Nonsense_Mutation	SNP	ENST00000327381.6	37	c.336C>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	38	7.148378	0.98096	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	.	.	.	4.91	4.03	0.46877	.	0.338856	0.30850	N	0.008751	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.5304	9.6454	0.39863	0.0:0.7798:0.1419:0.0783	.	.	.	.	X	112	.	ENSP00000328326:C112X	C	+	3	2	XKR4	56177938	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.379000	0.52440	1.051000	0.40369	0.650000	0.86243	TGC		0.751	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		24	35	1	0	3.6726e-16	1	4.22239e-16	24	35				
GPR17	2840	broad.mit.edu	37	2	128408482	128408482	+	Missense_Mutation	SNP	G	G	A	rs369485456		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:128408482G>A	ENST00000272644.3	+	3	331	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.R86Q|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410038.1_5'Flank|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000544369.1_Missense_Mutation_p.R86Q|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409254.1_5'Flank	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	86					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CTTTTCATCCGAGACCACAAG	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18770	0.0		0.0	False		,,,				2504	0.0					ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(256-258)cGa>cAa		G protein-coupled receptor 17		G	,,,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	110.0	104.0	106.0		,,,257,173,173,257,	4.6	1.0	2		106	0,8600		0,0,4300	no	intron,intron,intron,missense,missense,missense,missense,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,43,43,43,43,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,benign,benign,benign,benign,	,,,86/368,58/340,58/340,86/368,	128408482	1,13005	2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408482G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.257G>A	2.37:g.128408482G>A	ENSP00000272644:p.Arg86Gln					LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.R86Q|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.R86Q|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron	p.R86Q	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	868	+	Colorectal(110;0.1)	Ovarian(717;0.15)	86					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.257G>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	g	14.36	2.511804	0.44660	2.27E-4	0.0	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000423019;ENST00000393018	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.47	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.255631	0.39909	N	0.001222	T	0.28499	0.0705	L	0.37897	1.145	0.35375	D	0.789389	B	0.32731	0.382	B	0.22601	0.04	T	0.35624	-0.9781	10	0.27785	T	0.31	.	10.4717	0.44640	0.1485:0.0:0.8515:0.0	.	86	Q13304	GPR17_HUMAN	Q	86	ENSP00000442982:R86Q;ENSP00000272644:R86Q;ENSP00000387970:R86Q;ENSP00000376741:R86Q	ENSP00000272644:R86Q	R	+	2	0	GPR17	128124952	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.150000	0.50662	1.317000	0.45149	-0.140000	0.14226	CGA		0.587	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			83	84	0	0	0	1	0	83	84				
COLEC10	10584	broad.mit.edu	37	8	120118212	120118212	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:120118212C>T	ENST00000332843.2	+	6	657	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	206	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGGCTTCTTTCGGGTGTTCAT	0.517																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(616-618)Cgg>Tgg		collectin sub-family member 10 (C-type lectin)							109.0	93.0	98.0					8																	120118212		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120118212C>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.616C>T	8.37:g.120118212C>T	ENSP00000332723:p.Arg206Trp						p.R206W	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		6	657	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		206			C-type lectin.		Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.616C>T	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592215	0.66219	.	.	ENSG00000184374	ENST00000332843	T	0.19806	2.12	5.21	3.23	0.37069	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.060230	0.64402	D	0.000009	T	0.43166	0.1235	M	0.68317	2.08	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.44757	-0.9307	10	0.72032	D	0.01	-14.474	13.3502	0.60597	0.4097:0.5903:0.0:0.0	.	206	Q9Y6Z7	COL10_HUMAN	W	206	ENSP00000332723:R206W	ENSP00000332723:R206W	R	+	1	2	COLEC10	120187393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.058000	0.30504	1.264000	0.44198	0.555000	0.69702	CGG		0.517	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			52	54	0	0	0	1	0	52	54				
GRM8	2918	broad.mit.edu	37	7	126086270	126086270	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:126086270C>A	ENST00000339582.2	-	10	3395	c.2587G>T	c.(2587-2589)Gcc>Tcc	p.A863S	GRM8_ENST00000444921.2_Missense_Mutation_p.A863S|GRM8_ENST00000358373.3_Missense_Mutation_p.A863S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	863					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGCATGGTGGCAGCTGTCACC	0.423										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2587-2589)Gcc>Tcc		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						189.0	169.0	176.0					7																	126086270		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086270C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2587G>T	7.37:g.126086270C>A	ENSP00000344173:p.Ala863Ser	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.A863S|GRM8_ENST00000358373.3_Missense_Mutation_p.A863S	p.A863S			O00222	GRM8_HUMAN			10	3395	-		Prostate(267;0.186)	863					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2587G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310946	0.95629	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88896	-2.35;-2.35;-2.44	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	L	0.58101	1.795	0.80722	D	1	D;P	0.71674	0.998;0.803	D;B	0.80764	0.994;0.418	D	0.93072	0.6483	10	0.56958	D	0.05	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	863;863	O00222-2;O00222	.;GRM8_HUMAN	S	863	ENSP00000344173:A863S;ENSP00000409790:A863S;ENSP00000351142:A863S	ENSP00000344173:A863S	A	-	1	0	GRM8	125873506	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.788000	0.85771	2.826000	0.97356	0.655000	0.94253	GCC		0.423	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			35	110	1	0	1.836e-18	1	2.13644e-18	35	110				
PAXIP1	22976	broad.mit.edu	37	7	154746133	154746133	+	Splice_Site	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:154746133T>C	ENST00000404141.1	-	16	2807	c.2653A>G	c.(2653-2655)Aag>Gag	p.K885E	PAXIP1_ENST00000473219.1_5'UTR|RP11-5C23.2_ENST00000609134.1_RNA|PAXIP1_ENST00000397192.1_Splice_Site_p.K885E|RP11-5C23.1_ENST00000608064.1_RNA			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	885	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATGTAGAGCTTCTAAAGGTCA	0.483																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.e16-1		PAX interacting (with transcription-activation domain) protein 1							33.0	35.0	34.0					7																	154746133		2060	4226	6286	SO:0001630	splice_region_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154746133T>C	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2653-1A>G	7.37:g.154746133T>C						PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Splice_Site_p.K885_splice	p.K885_splice			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	16	2807	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	885			BRCT 5.|Interaction with TP53BP1.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Splice_Site	SNP	ENST00000404141.1	37	c.2652_splice	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056670	0.36277	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.80994	-1.44;-1.44	4.91	4.91	0.64330	BRCT (4);	0.000000	0.56097	U	0.000037	D	0.82416	0.5032	L	0.51422	1.61	0.47245	D	0.99936	D;D;P	0.60575	0.988;0.985;0.953	P;P;P	0.56514	0.8;0.698;0.608	T	0.79050	-0.1962	10	0.15952	T	0.53	-40.9194	14.5739	0.68232	0.0:0.0:0.0:1.0	.	838;851;885	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	E	885;885;709;838	ENSP00000384048:K885E;ENSP00000380376:K885E	ENSP00000319149:K838E	K	-	1	0	PAXIP1	154377066	1.000000	0.71417	0.989000	0.46669	0.397000	0.30659	4.819000	0.62664	1.847000	0.53656	0.528000	0.53228	AAG		0.483	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	Missense_Mutation	7	25	0	0	0	1	0	7	25				
ALK	238	broad.mit.edu	37	2	29519891	29519891	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:29519891C>G	ENST00000389048.3	-	9	2586	c.1680G>C	c.(1678-1680)ttG>ttC	p.L560F	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	560	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.		L -> F (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L560L(1)|p.L560F(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CGTTTCCCCTCAAGACTCCAC	0.547			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.L560L(1)|p.L560F(1)	breast(2)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1678-1680)ttG>ttC		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						132.0	106.0	115.0					2																	29519891		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29519891C>G	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1680G>C	2.37:g.29519891C>G	ENSP00000373700:p.Leu560Phe					ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	p.L560F	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			9	2586	-	Acute lymphoblastic leukemia(172;0.155)		560		L -> F (in a breast pleomorphic lobular carcinoma sample; somatic mutation).	MAM 2.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1680G>C	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361137	0.24684	.	.	ENSG00000171094	ENST00000389048	T	0.02015	4.5	5.2	2.41	0.29592	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.37393	U	0.002118	T	0.02267	0.0070	L	0.32530	0.975	0.22961	N	0.998505	B	0.30439	0.279	B	0.35039	0.194	T	0.46952	-0.9154	9	.	.	.	.	8.3024	0.32023	0.0:0.7454:0.0:0.2546	.	560	Q9UM73	ALK_HUMAN	F	560	ENSP00000373700:L560F	.	L	-	3	2	ALK	29373395	0.416000	0.25424	0.253000	0.24343	0.962000	0.63368	0.726000	0.25984	0.596000	0.29794	0.563000	0.77884	TTG		0.547	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		34	45	0	0	0	1	0	34	45				
GSTM4	2948	broad.mit.edu	37	1	110199046	110199046	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:110199046G>A	ENST00000369836.4	+	1	344	c.35G>A	c.(34-36)gGg>gAg	p.G12E	GSTM4_ENST00000326729.5_Splice_Site_p.G12E|GSTM4_ENST00000336075.5_Splice_Site_p.G12E|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000369833.1_5'UTR	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	12	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GACATCCGCGGGGTGAGTGAG	0.652																																						ENST00000369836.4																			0				endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.e1+1		glutathione S-transferase mu 4	Glutathione(DB00143)						94.0	92.0	93.0					1																	110199046		2203	4300	6503	SO:0001630	splice_region_variant	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110199046G>A	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.36+1G>A	1.37:g.110199046G>A						GSTM4_ENST00000336075.5_Splice_Site_p.G12_splice|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Splice_Site_p.G12_splice	p.G12_splice	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	1	344	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	12			GST N-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Splice_Site	SNP	ENST00000369836.4	37	c.36_splice	CCDS807.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204195	0.95033	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729	T;T;T	0.09350	2.99;2.99;2.99	3.91	3.91	0.45181	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000003	T	0.47544	0.1451	H	0.99859	4.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.999	T	0.71500	-0.4574	10	0.87932	D	0	-21.8013	13.2636	0.60120	0.0:0.0:1.0:0.0	.	12;12;12;12	Q4JNT8;Q0D2I8;Q03013-2;Q03013	.;.;.;GSTM4_HUMAN	E	12	ENSP00000358851:G12E;ENSP00000336744:G12E;ENSP00000316471:G12E	ENSP00000316471:G12E	G	+	2	0	GSTM4	110000569	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.129000	0.77225	2.193000	0.70182	0.561000	0.74099	GGG		0.652	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850	Missense_Mutation	27	106	0	0	0	1	0	27	106				
FGG	2266	broad.mit.edu	37	4	155529728	155529728	+	Silent	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:155529728A>G	ENST00000336098.3	-	7	779	c.741T>C	c.(739-741)acT>acC	p.T247T	FGG_ENST00000407946.1_Silent_p.T255T|FGG_ENST00000405164.1_Silent_p.T255T|FGG_ENST00000404648.3_Silent_p.T247T	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	247	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTTGTGCCAGTAGGAGACA	0.388																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(739-741)acT>acC		fibrinogen gamma chain	Sucralfate(DB00364)						104.0	100.0	102.0					4																	155529728		2203	4300	6503	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155529728A>G		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.741T>C	4.37:g.155529728A>G						FGG_ENST00000336098.3_Silent_p.T247T|FGG_ENST00000407946.1_Silent_p.T255T|FGG_ENST00000405164.1_Silent_p.T255T	p.T247T	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			7	980	-	all_hematologic(180;0.215)	Renal(120;0.0458)	247			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.741T>C	CCDS3788.1																																																																																				0.388	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		13	60	0	0	0	1	0	13	60				
CRBN	51185	broad.mit.edu	37	3	3215894	3215894	+	Missense_Mutation	SNP	C	C	T	rs370224981		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:3215894C>T	ENST00000231948.4	-	3	248	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CRBN_ENST00000432408.2_Missense_Mutation_p.D75N	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	76					negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	TGACAGCTGTCGTCATCGTGC	0.398																																						ENST00000231948.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(226-228)Gac>Aac		cereblon		C	ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	82.0	80.0	80.0		223,226	5.8	1.0	3		80	0,8600		0,0,4300	no	missense,missense	CRBN	NM_001173482.1,NM_016302.3	23,23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	75/442,76/443	3215894	2,13004	2203	4300	6503	SO:0001583	missense	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3215894C>T	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.226G>A	3.37:g.3215894C>T	ENSP00000231948:p.Asp76Asn					CRBN_ENST00000432408.2_Missense_Mutation_p.D75N	p.D76N	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	3	248	-			76					B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	c.226G>A	CCDS2562.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182246	0.94885	4.54E-4	0.0	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	L	0.55103	1.725	0.80722	D	1	D;P;P	0.60160	0.987;0.921;0.871	P;B;B	0.52881	0.712;0.441;0.256	T	0.57906	-0.7730	9	0.20519	T	0.43	-14.7744	20.168	0.98156	0.0:1.0:0.0:0.0	.	13;75;76	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	N	76;75;13	.	ENSP00000231948:D76N	D	-	1	0	CRBN	3190894	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	7.638000	0.83328	2.761000	0.94854	0.650000	0.86243	GAC		0.398	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		14	38	0	0	0	1	0	14	38				
CCNL2	81669	broad.mit.edu	37	1	1325745	1325745	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:1325745G>C	ENST00000400809.3	-	8	876	c.871C>G	c.(871-873)Ctc>Gtc	p.L291V	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L69V	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	291					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGGTGTGTGAGATCAACCTGC	0.517																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(871-873)Ctc>Gtc		cyclin L2							99.0	101.0	100.0					1																	1325745		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325745G>C	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.871C>G	1.37:g.1325745G>C	ENSP00000383611:p.Leu291Val					CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L69V	p.L291V	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	8	876	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	291					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.871C>G	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	0.899	-0.722904	0.03158	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T	0.32988	1.43	5.66	0.0433	0.14221	Cyclin-like (1);	0.292916	0.26442	N	0.024345	T	0.08358	0.0208	N	0.01209	-0.955	0.22066	N	0.999383	P	0.36199	0.543	B	0.39660	0.306	T	0.15896	-1.0421	10	0.18710	T	0.47	.	1.5101	0.02494	0.363:0.1377:0.3598:0.1396	.	291	Q96S94	CCNL2_HUMAN	V	291;69	ENSP00000383611:L291V	ENSP00000383611:L291V	L	-	1	0	CCNL2	1315608	0.390000	0.25213	0.099000	0.21106	0.005000	0.04900	0.795000	0.26972	0.213000	0.20722	-0.158000	0.13435	CTC		0.517	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		28	55	0	0	0	1	0	28	55				
SNURF	8926	broad.mit.edu	37	15	25230329	25230329	+	Intron	SNP	C	C	T	rs373432859	byFrequency	TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:25230329C>T	ENST00000551312.2	+	6	1184				SNHG14_ENST00000551631.2_RNA|SNORD108_ENST00000459332.1_RNA|SNHG14_ENST00000551361.1_RNA|SNORD64_ENST00000386683.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TACTGTCAGTCTAAGGACTCA	0.393																																						ENST00000551631.2																			0																				77.0	75.0	76.0					15																	25230329		876	1991	2867	SO:0001627	intron_variant	104472715							g.chr15:25230329C>T		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+2745C>T	15.37:g.25230329C>T						SNHG14_ENST00000551361.1_RNA		NR_001293.1						0	887	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1																																																																																				0.393	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		10	31	0	0	0	1	0	10	31				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	6	0	0	0	1	0	4	6				
ANO1	55107	broad.mit.edu	37	11	69954473	69954473	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr11:69954473G>A	ENST00000355303.5	+	6	1067	c.762G>A	c.(760-762)ttG>ttA	p.L254L	ANO1_ENST00000316296.5_Silent_p.L226L|ANO1_ENST00000530676.1_Silent_p.L138L|ANO1_ENST00000538023.1_Silent_p.L254L|ANO1_ENST00000531349.1_5'UTR|ANO1_ENST00000398543.2_Silent_p.L138L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	254					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ATGAGATCTTGAAGAGAACGA	0.502																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(760-762)ttG>ttA		anoctamin 1, calcium activated chloride channel							149.0	148.0	148.0					11																	69954473		1984	4162	6146	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69954473G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.762G>A	11.37:g.69954473G>A						ANO1_ENST00000398543.2_Silent_p.L138L|ANO1_ENST00000538023.1_Silent_p.L254L|ANO1_ENST00000531349.1_5'UTR|ANO1_ENST00000530676.1_Silent_p.L138L|ANO1_ENST00000316296.5_Silent_p.L226L	p.L254L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			6	1067	+			254					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.762G>A	CCDS44663.1																																																																																				0.502	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		23	252	0	0	0	1	0	23	252				
WHAMMP3	339005	broad.mit.edu	37	15	23191872	23191872	+	RNA	SNP	T	T	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr15:23191872T>A	ENST00000400153.2	-	0	1824					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TATCTTATGCTTTCTTCAGCC	0.418																																						ENST00000400153.2																			0																																																			339005							g.chr15:23191872T>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191872T>A								NR_003521.1						0	1824	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.418	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		15	65	0	0	0	1	0	15	65				
RGS18	64407	broad.mit.edu	37	1	192153626	192153626	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:192153626G>T	ENST00000367460.3	+	5	831	c.650G>T	c.(649-651)cGc>cTc	p.R217L		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	217					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGATCACGCTCATTTACC	0.348																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(649-651)cGc>cTc		regulator of G-protein signaling 18							93.0	86.0	88.0					1																	192153626		2203	4299	6502	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192153626G>T	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.650G>T	1.37:g.192153626G>T	ENSP00000356430:p.Arg217Leu						p.R217L	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			5	831	+			217					B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.650G>T	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839405	0.91117	.	.	ENSG00000150681	ENST00000367460	T	0.55234	0.53	5.62	5.62	0.85841	.	0.094103	0.85682	D	0.000000	T	0.48003	0.1476	L	0.36672	1.1	0.80722	D	1	D	0.58970	0.984	P	0.45538	0.484	T	0.38542	-0.9656	10	0.30854	T	0.27	.	16.3945	0.83586	0.0:0.0:1.0:0.0	.	217	Q9NS28	RGS18_HUMAN	L	217	ENSP00000356430:R217L	ENSP00000356430:R217L	R	+	2	0	RGS18	190420249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.933000	0.70130	2.648000	0.89879	0.563000	0.77884	CGC		0.348	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		20	46	1	0	3.51602e-12	1	3.85757e-12	20	46				
ZNF491	126069	broad.mit.edu	37	19	11917357	11917357	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:11917357A>C	ENST00000323169.5	+	3	920	c.589A>C	c.(589-591)Aat>Cat	p.N197H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAAATCATTCAATTTTTCCAG	0.433																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(589-591)Aat>Cat		zinc finger protein 491							59.0	59.0	59.0					19																	11917357		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917357A>C	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.589A>C	19.37:g.11917357A>C	ENSP00000313443:p.Asn197His					ZNF491_ENST00000492230.1_Intron	p.N197H	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	920	+			197					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.589A>C	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	0.189	-1.055282	0.01965	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.15256	2.44	0.892	0.892	0.19230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11836	0.0288	N	0.16567	0.415	0.09310	N	1	P	0.41450	0.75	P	0.45343	0.477	T	0.18745	-1.0327	9	0.54805	T	0.06	.	4.0301	0.09705	1.0:0.0:0.0:0.0	.	197	Q8N8L2	ZN491_HUMAN	H	197	ENSP00000313443:N197H	ENSP00000313443:N197H	N	+	1	0	ZNF491	11778357	0.000000	0.05858	0.005000	0.12908	0.060000	0.15804	-0.382000	0.07408	0.647000	0.30713	0.334000	0.21626	AAT		0.433	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		14	26	0	0	0	1	0	14	26				
EPN1	29924	broad.mit.edu	37	19	56190148	56190148	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr19:56190148C>T	ENST00000270460.6	+	2	466	c.155C>T	c.(154-156)gCc>gTc	p.A52V	EPN1_ENST00000085079.7_Missense_Mutation_p.A52V|EPN1_ENST00000411543.2_Missense_Mutation_p.A163V	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	52	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		AACGTTGTCGCCTTCTCGGAG	0.582																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(487-489)gCc>gTc		epsin 1							76.0	73.0	74.0					19																	56190148		2203	4300	6503	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56190148C>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.155C>T	19.37:g.56190148C>T	ENSP00000270460:p.Ala52Val					EPN1_ENST00000270460.6_Missense_Mutation_p.A52V|EPN1_ENST00000085079.7_Missense_Mutation_p.A52V	p.A163V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	3	1035	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	52					Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.488C>T	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653358	0.67472	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.44482	0.92;0.92;0.92	3.94	3.94	0.45596	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.059974	0.64402	D	0.000003	T	0.69628	0.3132	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.986;0.998;0.986;0.995	T	0.74253	-0.3725	10	0.33141	T	0.24	-18.247	15.2894	0.73854	0.0:1.0:0.0:0.0	.	13;163;52;52	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	52;52;13;163	ENSP00000270460:A52V;ENSP00000085079:A52V;ENSP00000406209:A163V	ENSP00000085079:A52V	A	+	2	0	EPN1	60881960	1.000000	0.71417	0.979000	0.43373	0.649000	0.38597	7.487000	0.81328	2.215000	0.71742	0.561000	0.74099	GCC		0.582	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		18	40	0	0	0	1	0	18	40				
OR11H12	440153	broad.mit.edu	37	14	19378104	19378104	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:19378104T>C	ENST00000550708.1	+	1	583	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTCTGTGGTTCCTGATCCC	0.488																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(511-513)Ttc>Ctc		olfactory receptor, family 11, subfamily H, member 12							122.0	133.0	129.0					14																	19378104		2201	4294	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378104T>C		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.511T>C	14.37:g.19378104T>C	ENSP00000449002:p.Phe171Leu						p.F171L	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	583	+	all_cancers(95;0.00108)		171						Missense_Mutation	SNP	ENST00000550708.1	37	c.511T>C	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	t	4.705	0.131181	0.08981	.	.	ENSG00000257115	ENST00000550708	T	0.36340	1.26	0.585	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	0.155915	0.29403	N	0.012259	T	0.12561	0.0305	N	0.05441	-0.05	0.24273	N	0.995231	B	0.22146	0.065	B	0.25987	0.065	T	0.19128	-1.0315	9	0.11794	T	0.64	.	2.226	0.03984	0.0:0.2725:0.3144:0.4131	.	171	B2RN74	O11HC_HUMAN	L	171	ENSP00000449002:F171L	ENSP00000449002:F171L	F	+	1	0	CR383656.1	18448104	0.000000	0.05858	0.813000	0.32504	0.076000	0.17211	-1.361000	0.02597	-0.435000	0.07264	0.055000	0.15244	TTC		0.488	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		24	329	0	0	0	1	0	24	329				
C17orf53	78995	broad.mit.edu	37	17	42226060	42226060	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:42226060C>T	ENST00000319977.4	+	3	1126	c.889C>T	c.(889-891)Cct>Tct	p.P297S	C17orf53_ENST00000245382.6_Missense_Mutation_p.P297S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P297S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	297										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAATCGTTTCCCTTGTCAGCC	0.527																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(889-891)Cct>Tct		chromosome 17 open reading frame 53							177.0	176.0	176.0					17																	42226060		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42226060C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.889C>T	17.37:g.42226060C>T	ENSP00000313500:p.Pro297Ser					C17orf53_ENST00000585683.1_Missense_Mutation_p.P297S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P297S	p.P297S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1126	+		Breast(137;0.0364)|Prostate(33;0.0376)	297					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.889C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	9.051	0.992128	0.18966	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.54866	0.73;0.55	5.05	1.71	0.24356	.	0.655388	0.14323	N	0.326868	T	0.35885	0.0947	L	0.47716	1.5	0.09310	N	1	B;B;B	0.23377	0.084;0.035;0.084	B;B;B	0.20184	0.028;0.019;0.028	T	0.28650	-1.0037	10	0.07030	T	0.85	-1.8249	4.7496	0.13054	0.1653:0.6332:0.0:0.2015	.	297;297;297	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	S	297	ENSP00000313500:P297S;ENSP00000245382:P297S	ENSP00000245382:P297S	P	+	1	0	C17orf53	39581586	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.298000	0.19120	0.214000	0.20742	0.555000	0.69702	CCT		0.527	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		126	124	0	0	0	1	0	126	124				
CAPRIN2	65981	broad.mit.edu	37	12	30872091	30872091	+	Silent	SNP	A	A	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:30872091A>C	ENST00000395805.2	-	12	2659	c.2112T>G	c.(2110-2112)tcT>tcG	p.S704S	CAPRIN2_ENST00000417045.1_Silent_p.S739S|CAPRIN2_ENST00000308433.5_Silent_p.S406S|CAPRIN2_ENST00000251071.5_Silent_p.S739S|CAPRIN2_ENST00000298892.5_Intron	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGCCCTGTTCAGAGCCCTTTG	0.498																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2215-2217)tcT>tcG		caprin family member 2							203.0	185.0	191.0					12																	30872091		2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30872091A>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2112T>G	12.37:g.30872091A>C						CAPRIN2_ENST00000417045.1_Silent_p.S739S|CAPRIN2_ENST00000308433.5_Silent_p.S406S|CAPRIN2_ENST00000395805.2_Silent_p.S704S|CAPRIN2_ENST00000298892.5_Intron	p.S739S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			13	2967	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		739						Silent	SNP	ENST00000395805.2	37	c.2217T>G	CCDS55816.1																																																																																				0.498	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		56	441	0	0	0	1	0	56	441				
LRRC7	57554	broad.mit.edu	37	1	70541926	70541926	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:70541926G>T	ENST00000035383.5	+	22	4313	c.4283G>T	c.(4282-4284)gGa>gTa	p.G1428V	LRRC7_ENST00000310961.5_Missense_Mutation_p.G1386V|LRRC7_ENST00000415775.2_Missense_Mutation_p.G712V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1428						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTCAGCCTGGACGGTGCTTA	0.438																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4156-4158)gGa>gTa		leucine rich repeat containing 7							81.0	81.0	81.0					1																	70541926		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541926G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4283G>T	1.37:g.70541926G>T	ENSP00000035383:p.Gly1428Val					LRRC7_ENST00000415775.2_Missense_Mutation_p.G712V|LRRC7_ENST00000035383.5_Missense_Mutation_p.G1428V	p.G1386V			Q96NW7	LRRC7_HUMAN			24	4575	+			1428					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4157G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704407	0.68615	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36699	1.24;1.29;2.39	6.06	6.06	0.98353	PDZ/DHR/GLGF (1);	0.125488	0.56097	D	0.000038	T	0.18215	0.0437	N	0.08118	0	0.58432	D	0.999998	P;P;P	0.51351	0.902;0.944;0.58	B;P;B	0.47981	0.359;0.563;0.254	T	0.06716	-1.0811	10	0.87932	D	0	.	14.7632	0.69619	0.0705:0.0:0.9295:0.0	.	712;1381;1428	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	V	1386;1428;712;1204	ENSP00000309245:G1386V;ENSP00000035383:G1428V;ENSP00000394867:G712V	ENSP00000035383:G1428V	G	+	2	0	LRRC7	70314514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.585000	0.60977	2.880000	0.98712	0.650000	0.86243	GGA		0.438	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		20	82	1	0	2.37509e-13	1	2.62079e-13	20	82				
FAM86JP	100125556	broad.mit.edu	37	3	125643926	125643926	+	RNA	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:125643926C>A	ENST00000485843.1	+	0	450					NR_024251.1				family with sequence similarity 86, member J, pseudogene																		GTCCGCAACCCAGAGACATGC	0.657																																						ENST00000485843.1																			0																																																			100125556							g.chr3:125643926C>A			3q21.2	2012-06-28			ENSG00000171084	ENSG00000171084			44097	pseudogene	pseudogene							Standard	NR_024250		Approved		uc003eif.4		OTTHUMG00000159586		3.37:g.125643926C>A								NR_024251.1						0	450	+									RNA	SNP	ENST00000485843.1	37																																																																																						0.657	FAM86JP-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356339.1	NR_024251		31	73	1	0	2.08457e-15	1	2.35434e-15	31	73				
RNF113B	140432	broad.mit.edu	37	13	98829181	98829181	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr13:98829181C>T	ENST00000267291.6	-	1	338	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	104							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCCTCTGGCCCCACAGGCTTC	0.687																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(310-312)Ggg>Agg		ring finger protein 113B							51.0	50.0	50.0					13																	98829181		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98829181C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.310G>A	13.37:g.98829181C>T	ENSP00000267291:p.Gly104Arg					FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	p.G104R	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	338	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		104					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.310G>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557775	0.65425	.	.	ENSG00000139797	ENST00000267291	T	0.32515	1.45	1.16	1.16	0.20824	.	0.000000	0.85682	U	0.000000	T	0.56673	0.2001	M	0.91354	3.2	0.58432	D	0.999995	D	0.76494	0.999	D	0.73380	0.98	T	0.62039	-0.6938	10	0.72032	D	0.01	.	8.184	0.31328	0.0:1.0:0.0:0.0	.	104	Q8IZP6	R113B_HUMAN	R	104	ENSP00000267291:G104R	ENSP00000267291:G104R	G	-	1	0	RNF113B	97627182	1.000000	0.71417	0.981000	0.43875	0.068000	0.16541	5.042000	0.64202	0.936000	0.37367	0.484000	0.47621	GGG		0.687	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		24	37	0	0	0	1	0	24	37				
PLBD2	196463	broad.mit.edu	37	12	113826348	113826348	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:113826348A>T	ENST00000280800.3	+	12	1718	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	PLBD2_ENST00000545182.2_Missense_Mutation_p.S531C	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	563					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTTCCAGTGGAGCACCTCGCC	0.647																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1687-1689)Agc>Tgc		phospholipase B domain containing 2							62.0	55.0	57.0					12																	113826348		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113826348A>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1687A>T	12.37:g.113826348A>T	ENSP00000280800:p.Ser563Cys					PLBD2_ENST00000545182.2_Missense_Mutation_p.S531C	p.S563C	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			12	1718	+			563					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1687A>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.429666	0.83776	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.19938	2.11;2.11	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.92317	3.295	0.47183	D	0.999347	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.68500	-0.5392	10	0.87932	D	0	-35.8307	14.5875	0.68339	1.0:0.0:0.0:0.0	.	531;563	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	C	531;563	ENSP00000443463:S531C;ENSP00000280800:S563C	ENSP00000280800:S563C	S	+	1	0	PLBD2	112310731	1.000000	0.71417	0.994000	0.49952	0.710000	0.40934	9.091000	0.94151	1.910000	0.55303	0.445000	0.29226	AGC		0.647	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		5	14	0	0	0	1	0	5	14				
CFAP61	26074	broad.mit.edu	37	20	20278851	20278851	+	Silent	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr20:20278851G>A	ENST00000245957.5	+	25	3319	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1081										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCGGCAGTGCGAAAAATGGGA	0.428																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(3241-3243)gcG>gcA		chromosome 20 open reading frame 26							75.0	74.0	74.0					20																	20278851		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20278851G>A																												ENST00000245957.5:c.3243G>A	20.37:g.20278851G>A						C20orf26_ENST00000377309.2_3'UTR	p.A1081A	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3319	+			1081					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.3243G>A	CCDS33447.1																																																																																				0.428	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			25	65	0	0	0	1	0	25	65				
PABPC1	26986	broad.mit.edu	37	8	101717845	101717845	+	Silent	SNP	G	G	A	rs138307186		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:101717845G>A	ENST00000318607.5	-	12	2787	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Silent_p.A508A|PABPC1_ENST00000522387.1_Silent_p.A521A|PABPC1_ENST00000519596.1_5'Flank	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	553	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CTTGAGGAGGGGCAGATGCCA	0.428																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(1657-1659)gcC>gcT		poly(A) binding protein, cytoplasmic 1							61.0	53.0	56.0					8																	101717845		2203	4300	6503	SO:0001819	synonymous_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101717845G>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1659C>T	8.37:g.101717845G>A						PABPC1_ENST00000519004.1_Silent_p.A508A|PABPC1_ENST00000522387.1_Silent_p.A521A	p.A553A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		12	2787	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		553			PABC.		Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	c.1659C>T	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710923	0.48517	.	.	ENSG00000070756	ENST00000520868	.	.	.	5.75	0.765	0.18470	.	.	.	.	.	T	0.41627	0.1167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23797	-1.0178	4	.	.	.	.	0.9932	0.01461	0.2458:0.1234:0.3782:0.2525	.	.	.	.	L	86	.	.	P	-	2	0	PABPC1	101787021	0.996000	0.38824	0.999000	0.59377	0.999000	0.98932	0.344000	0.19962	0.135000	0.18707	0.655000	0.94253	CCC		0.428	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		6	48	0	0	0	1	0	6	48				
CEP104	9731	broad.mit.edu	37	1	3761502	3761502	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:3761502C>T	ENST00000378230.3	-	6	859	c.535G>A	c.(535-537)Gag>Aag	p.E179K	CEP104_ENST00000378223.3_Missense_Mutation_p.E179K	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	179						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCAGGGTCCTCGCTGTTGTGC	0.478																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(535-537)Gag>Aag		centrosomal protein 104kDa							121.0	103.0	109.0					1																	3761502		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3761502C>T	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.535G>A	1.37:g.3761502C>T	ENSP00000367476:p.Glu179Lys					CEP104_ENST00000378223.3_Missense_Mutation_p.E179K	p.E179K	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			6	859	-			179					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.535G>A	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	9.238	1.037606	0.19669	.	.	ENSG00000116198	ENST00000378230;ENST00000428079;ENST00000378223	T	0.32753	1.44	5.02	4.11	0.48088	.	0.326123	0.32901	N	0.005504	T	0.28665	0.0710	L	0.48642	1.525	0.31833	N	0.624446	B;D	0.56287	0.33;0.975	B;P	0.44623	0.03;0.455	T	0.28554	-1.0040	10	0.22109	T	0.4	.	12.1577	0.54087	0.0:0.9174:0.0:0.0826	.	179;179	O60308-3;O60308	.;CE104_HUMAN	K	179;121;179	ENSP00000367476:E179K	ENSP00000367468:E179K	E	-	1	0	CEP104	3751362	1.000000	0.71417	0.800000	0.32199	0.137000	0.21094	3.403000	0.52615	1.114000	0.41781	0.655000	0.94253	GAG		0.478	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		9	44	0	0	0	1	0	9	44				
UNC79	57578	broad.mit.edu	37	14	94155053	94155053	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:94155053T>C	ENST00000393151.2	+	45	7069	c.7069T>C	c.(7069-7071)Ttt>Ctt	p.F2357L	UNC79_ENST00000553484.1_Missense_Mutation_p.F2379L|UNC79_ENST00000555664.1_Missense_Mutation_p.F2318L|UNC79_ENST00000256339.4_Missense_Mutation_p.F2180L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2357					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAAGATACCTTTGGGGGACA	0.507																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7135-7137)Ttt>Ctt		unc-79 homolog (C. elegans)							88.0	83.0	85.0					14																	94155053		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94155053T>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7069T>C	14.37:g.94155053T>C	ENSP00000376858:p.Phe2357Leu					UNC79_ENST00000555664.1_Missense_Mutation_p.F2318L|UNC79_ENST00000256339.4_Missense_Mutation_p.F2180L|UNC79_ENST00000393151.2_Missense_Mutation_p.F2357L	p.F2379L			Q9P2D8	UNC79_HUMAN			46	7289	+			2357					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7135T>C		.	.	.	.	.	.	.	.	.	.	T	9.388	1.074820	0.20227	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.14391	2.51;2.53;2.51;2.51	5.52	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.05227	0.0139	N	0.02802	-0.49	0.51233	D	0.99991	B	0.17465	0.022	B	0.23716	0.048	T	0.23013	-1.0200	10	0.02654	T	1	-15.8019	11.5477	0.50702	0.0:0.0703:0.0:0.9297	.	2379	C9JQL1	.	L	2180;2318;2379;2357;2379	ENSP00000256339:F2180L;ENSP00000450868:F2318L;ENSP00000451360:F2379L;ENSP00000376858:F2357L	ENSP00000256339:F2180L	F	+	1	0	KIAA1409	93224806	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.977000	0.88081	1.036000	0.39998	0.459000	0.35465	TTT		0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		20	58	0	0	0	1	0	20	58				
USH2A	7399	broad.mit.edu	37	1	215963407	215963407	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:215963407C>T	ENST00000307340.3	-	51	10562	c.10176G>A	c.(10174-10176)atG>atA	p.M3392I	USH2A_ENST00000366943.2_Missense_Mutation_p.M3392I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3392					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.M3392I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTACCTTCATCATCATTCCAG	0.333										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - Missense(1)	p.M3392I(1)	lung(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10174-10176)atG>atA		Usher syndrome 2A (autosomal recessive, mild)							73.0	75.0	74.0					1																	215963407		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963407C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10176G>A	1.37:g.215963407C>T	ENSP00000305941:p.Met3392Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.M3392I	p.M3392I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10562	-			3392					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10176G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631513	0.29068	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12147	2.72;2.71	5.76	5.76	0.90799	Fibronectin, type III (2);	0.236337	0.29266	N	0.012646	T	0.15522	0.0374	L	0.55481	1.735	0.29613	N	0.84677	B	0.26318	0.146	B	0.15870	0.014	T	0.03413	-1.1039	10	0.45353	T	0.12	.	14.7746	0.69713	0.1443:0.8557:0.0:0.0	.	3392	O75445	USH2A_HUMAN	I	3392	ENSP00000305941:M3392I;ENSP00000355910:M3392I	ENSP00000305941:M3392I	M	-	3	0	USH2A	214030030	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	1.037000	0.30241	2.713000	0.92767	0.655000	0.94253	ATG		0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	37	0	0	0	1	0	9	37				
RBM5	10181	broad.mit.edu	37	3	50147090	50147090	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:50147090A>G	ENST00000347869.3	+	15	1422	c.1247A>G	c.(1246-1248)tAt>tGt	p.Y416C	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	416	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTCAGCTGTATAATCAAACC	0.473																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(1246-1248)tAt>tGt		RNA binding motif protein 5							197.0	174.0	182.0					3																	50147090		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50147090A>G	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1247A>G	3.37:g.50147090A>G	ENSP00000343054:p.Tyr416Cys					RBM5_ENST00000441812.2_3'UTR	p.Y416C	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	15	1422	+			416			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.1247A>G	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571589	0.65765	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.14766	2.48	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.984	T	0.00986	-1.1490	10	0.39692	T	0.17	-11.4692	16.8222	0.85835	1.0:0.0:0.0:0.0	.	106;416	Q59HE6;P52756	.;RBM5_HUMAN	C	416;415;106	ENSP00000343054:Y416C	ENSP00000343054:Y416C	Y	+	2	0	RBM5	50122094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.513000	0.73742	2.371000	0.80710	0.533000	0.62120	TAT		0.473	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		54	102	0	0	0	1	0	54	102				
TRAPPC11	60684	broad.mit.edu	37	4	184629643	184629643	+	Silent	SNP	A	A	G	rs113269326	byFrequency	TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:184629643A>G	ENST00000334690.6	+	29	3475	c.3273A>G	c.(3271-3273)ccA>ccG	p.P1091P	TRAPPC11_ENST00000357207.4_Intron|RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000512476.1_Silent_p.P697P	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1091					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											AGCAGCTGCCATCTCTCAACA	0.413													A|||	22	0.00439297	0.0159	0.0014	5008	,	,		17665	0.0		0.0	False		,,,				2504	0.0					ENST00000334690.6																			0											c.(3271-3273)ccA>ccG		trafficking protein particle complex 11		A	,	29,4377	35.2+/-66.4	0,29,2174	96.0	92.0	94.0		3273,	-5.8	0.9	4	dbSNP_132	94	0,8600		0,0,4300	no	coding-synonymous,intron	C4orf41	NM_021942.4,NM_199053.1	,	0,29,6474	GG,GA,AA		0.0,0.6582,0.223	,	1091/1134,	184629643	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	60684							g.chr4:184629643A>G		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3273A>G	4.37:g.184629643A>G						TRAPPC11_ENST00000357207.4_Intron|TRAPPC11_ENST00000512476.1_Silent_p.P697P	p.P1091P	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			29	3475	+			1091					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.3273A>G	CCDS34112.1																																																																																				0.413	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		22	35	0	0	0	1	0	22	35				
PHIP	55023	broad.mit.edu	37	6	79708024	79708024	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:79708024T>C	ENST00000275034.4	-	18	2131	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	655					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACGTCTCAGGTCTTGCTCCTG	0.388																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1963-1965)gAc>gGc		pleckstrin homology domain interacting protein							143.0	124.0	130.0					6																	79708024		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79708024T>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1964A>G	6.37:g.79708024T>C	ENSP00000275034:p.Asp655Gly						p.D655G	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	18	2131	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	655					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1964A>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797690	0.90538	.	.	ENSG00000146247	ENST00000275034	T	0.29142	1.58	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	M	0.67953	2.075	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	T	0.36261	-0.9755	9	.	.	.	-15.7928	15.544	0.76081	0.0:0.0:0.0:1.0	.	655;655	A7J992;Q8WWQ0	.;PHIP_HUMAN	G	655	ENSP00000275034:D655G	.	D	-	2	0	PHIP	79764743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.322000	0.79097	2.324000	0.78689	0.533000	0.62120	GAC		0.388	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			14	31	0	0	0	1	0	14	31				
STAG3	10734	broad.mit.edu	37	7	99808698	99808698	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:99808698C>T	ENST00000426455.1	+	30	3710	c.3303C>T	c.(3301-3303)agC>agT	p.S1101S	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Silent_p.S1101S|STAG3_ENST00000394018.2_Silent_p.S1043S	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1101					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTGAACAGCATCCCGCCCA	0.577																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(3301-3303)agC>agT		stromal antigen 3							74.0	74.0	74.0					7																	99808698		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99808698C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3303C>T	7.37:g.99808698C>T						GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Silent_p.S1043S|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.S1101S	p.S1101S			Q9UJ98	STAG3_HUMAN			30	3710	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		1101					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.3303C>T	CCDS34703.1																																																																																				0.577	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		33	77	0	0	0	1	0	33	77				
TECRL	253017	broad.mit.edu	37	4	65145895	65145895	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr4:65145895C>T	ENST00000381210.3	-	12	1097	c.987G>A	c.(985-987)atG>atA	p.M329I	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	329					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTGGATACTCATCAGAAGTG	0.274																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(985-987)atG>atA		trans-2,3-enoyl-CoA reductase-like							35.0	37.0	36.0					4																	65145895		2187	4248	6435	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65145895C>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.987G>A	4.37:g.65145895C>T	ENSP00000370607:p.Met329Ile					TECRL_ENST00000507440.1_Intron	p.M329I	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			12	1097	-			329						Missense_Mutation	SNP	ENST00000381210.3	37	c.987G>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235593	0.39498	.	.	ENSG00000205678	ENST00000381210	T	0.27557	1.66	5.09	3.34	0.38264	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.317623	0.38605	N	0.001633	T	0.23451	0.0567	L	0.41236	1.265	0.30423	N	0.777919	B	0.02656	0.0	B	0.06405	0.002	T	0.14008	-1.0488	10	0.56958	D	0.05	-10.2626	7.9555	0.30040	0.0:0.8082:0.0:0.1918	.	329	Q5HYJ1	TECRL_HUMAN	I	329	ENSP00000370607:M329I	ENSP00000370607:M329I	M	-	3	0	TECRL	64828490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.384000	0.34396	0.640000	0.30582	0.650000	0.86243	ATG		0.274	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		6	25	0	0	0	1	0	6	25				
DCLRE1B	64858	broad.mit.edu	37	1	114454293	114454293	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:114454293G>T	ENST00000369563.3	+	4	1525	c.1079G>T	c.(1078-1080)aGt>aTt	p.S360I	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	360					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGAGGAAAGTGCTGATCAA	0.488								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(1078-1080)aGt>aTt	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							68.0	68.0	68.0					1																	114454293		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454293G>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1079G>T	1.37:g.114454293G>T	ENSP00000358576:p.Ser360Ile					DCLRE1B_ENST00000466480.1_3'UTR	p.S360I	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1525	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	360					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.1079G>T	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	6.050	0.377501	0.11466	.	.	ENSG00000118655	ENST00000369563	T	0.74947	-0.89	5.88	-0.992	0.10232	.	1.011700	0.07906	N	0.973500	T	0.28632	0.0709	N	0.08118	0	0.09310	N	1	B	0.25521	0.128	B	0.19391	0.025	T	0.14783	-1.0460	10	0.39692	T	0.17	-3.5444	6.6071	0.22731	0.3579:0.2652:0.3768:0.0	.	360	Q9H816	DCR1B_HUMAN	I	360	ENSP00000358576:S360I	ENSP00000358576:S360I	S	+	2	0	DCLRE1B	114255816	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	0.313000	0.19415	-0.430000	0.07318	-0.345000	0.07892	AGT		0.488	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		34	81	1	0	9.04072e-19	1	1.05843e-18	34	81				
PAXBP1	94104	broad.mit.edu	37	21	34127589	34127589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr21:34127589G>A	ENST00000331923.4	-	8	1648	c.1459C>T	c.(1459-1461)Cga>Tga	p.R487*	PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.R487*|PAXBP1_ENST00000472588.1_5'Flank	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	487	Necessary and sufficient for interaction with PAX7. {ECO:0000250}.				muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCATCTTGTCGTCTTTGGACA	0.373											OREG0003541	type=REGULATORY REGION|Gene=C21orf66|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000331923.4																			0											c.(1459-1461)Cga>Tga		PAX3 and PAX7 binding protein 1							93.0	89.0	90.0					21																	34127589		2203	4300	6503	SO:0001587	stop_gained	94104							g.chr21:34127589G>A	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1459C>T	21.37:g.34127589G>A	ENSP00000328992:p.Arg487*		OREG0003541	type=REGULATORY REGION|Gene=C21orf66|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	845	PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.R487*	p.R487*	NM_016631.3	NP_057715.2					8	1648	-								D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	ENST00000331923.4	37	c.1459C>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	38	7.137809	0.98088	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.936	19.9576	0.97228	0.0:0.0:1.0:0.0	.	.	.	.	X	487	.	ENSP00000290178:R487X	R	-	1	2	GCFC1	33049460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.829000	0.62737	2.885000	0.99019	0.655000	0.94253	CGA		0.373	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		10	35	0	0	0	1	0	10	35				
PEX5L	51555	broad.mit.edu	37	3	179526210	179526210	+	Silent	SNP	C	C	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:179526210C>A	ENST00000467460.1	-	13	1698	c.1368G>T	c.(1366-1368)ggG>ggT	p.G456G	PEX5L_ENST00000468741.1_Silent_p.G264G|PEX5L_ENST00000392649.3_Silent_p.G348G|PEX5L_ENST00000476138.1_Silent_p.G413G|PEX5L_ENST00000485199.1_Silent_p.G421G|PEX5L_ENST00000263962.8_Silent_p.G454G|PEX5L_ENST00000472994.1_Silent_p.G397G|PEX5L_ENST00000464614.1_Silent_p.G348G|PEX5L_ENST00000465751.1_Silent_p.G432G|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	456					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTCCTTCACCCCTTCCAGAA	0.398																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1366-1368)ggG>ggT		peroxisomal biogenesis factor 5-like							86.0	91.0	89.0					3																	179526210		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179526210C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1368G>T	3.37:g.179526210C>A						PEX5L_ENST00000465751.1_Silent_p.G432G|PEX5L_ENST00000464614.1_Silent_p.G348G|PEX5L_ENST00000392649.3_Silent_p.G348G|PEX5L_ENST00000263962.8_Silent_p.G454G|PEX5L_ENST00000485199.1_Silent_p.G421G|PEX5L_ENST00000476138.1_Silent_p.G413G|PEX5L_ENST00000472994.1_Silent_p.G397G|PEX5L_ENST00000468741.1_Silent_p.G264G|PEX5L_ENST00000467440.2_5'UTR	p.G456G	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		13	1698	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		456					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.1368G>T	CCDS3236.1																																																																																				0.398	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		17	110	1	0	0.006122	1	0.00621918	17	110				
CDC42BPB	9578	broad.mit.edu	37	14	103438345	103438345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:103438345G>A	ENST00000361246.2	-	13	2083	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTTGTCTCGCAGCTGCCGG	0.617																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1795-1797)Cga>Tga		CDC42 binding protein kinase beta (DMPK-like)							123.0	100.0	108.0					14																	103438345		2203	4300	6503	SO:0001587	stop_gained	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103438345G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1795C>T	14.37:g.103438345G>A	ENSP00000355237:p.Arg599*						p.R599*	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	13	2083	-		Melanoma(154;0.155)	599						Nonsense_Mutation	SNP	ENST00000361246.2	37	c.1795C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	42	9.722252	0.99248	.	.	ENSG00000198752	ENST00000361246	.	.	.	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5736	0.76359	0.0:0.0:0.8609:0.1391	.	.	.	.	X	599	.	ENSP00000355237:R599X	R	-	1	2	CDC42BPB	102508098	1.000000	0.71417	0.939000	0.37840	0.987000	0.75469	5.465000	0.66725	1.289000	0.44618	0.655000	0.94253	CGA		0.617	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		4	143	0	0	0	1	0	4	143				
HIST1H2BL	8340	broad.mit.edu	37	6	27775416	27775416	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:27775416A>G	ENST00000377401.2	-	1	293	c.269T>C	c.(268-270)aTc>aCc	p.I90T	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	90					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CCTGGAGGTGATGGTCGAGCG	0.627																																						ENST00000377401.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(268-270)aTc>aCc		histone cluster 1, H2bl							102.0	102.0	102.0					6																	27775416		2203	4299	6502	SO:0001583	missense	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775416A>G	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.269T>C	6.37:g.27775416A>G	ENSP00000366618:p.Ile90Thr						p.I90T	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN			1	293	-			90					B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	c.269T>C	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.051682	0.75960	.	.	ENSG00000185130	ENST00000377401	T	0.76709	-1.04	4.35	4.35	0.52113	Histone-fold (2);Histone core (1);	0.377305	0.15510	U	0.258591	D	0.91828	0.7414	H	0.98818	4.34	0.44380	D	0.997285	D	0.89917	1.0	D	0.97110	1.0	D	0.94096	0.7357	10	0.87932	D	0	.	13.4391	0.61101	1.0:0.0:0.0:0.0	.	90	Q99880	H2B1L_HUMAN	T	90	ENSP00000366618:I90T	ENSP00000366618:I90T	I	-	2	0	HIST1H2BL	27883395	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	6.869000	0.75521	1.894000	0.54839	0.533000	0.62120	ATC		0.627	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		48	130	0	0	0	1	0	48	130				
ABCA6	23460	broad.mit.edu	37	17	67109491	67109491	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:67109491A>G	ENST00000284425.2	-	15	2087	c.1913T>C	c.(1912-1914)tTa>tCa	p.L638S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	638	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGGTTCATCTAAAAGCAAAAT	0.368																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1912-1914)tTa>tCa		ATP-binding cassette, sub-family A (ABC1), member 6							58.0	57.0	57.0					17																	67109491		2203	4299	6502	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67109491A>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1913T>C	17.37:g.67109491A>G	ENSP00000284425:p.Leu638Ser						p.L638S	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			15	2087	-	Breast(10;5.65e-12)		638			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1913T>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051816	0.75960	.	.	ENSG00000154262	ENST00000284425	D	0.96913	-4.17	4.95	4.95	0.65309	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.42420	D	0.000703	D	0.99064	0.9679	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98662	1.0684	10	0.87932	D	0	.	14.2264	0.65863	1.0:0.0:0.0:0.0	.	638	Q8N139	ABCA6_HUMAN	S	638	ENSP00000284425:L638S	ENSP00000284425:L638S	L	-	2	0	ABCA6	64621086	0.999000	0.42202	0.986000	0.45419	0.943000	0.58893	8.245000	0.89825	2.204000	0.70986	0.533000	0.62120	TTA		0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		15	15	0	0	0	1	0	15	15				
COG7	91949	broad.mit.edu	37	16	23415099	23415099	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:23415099C>T	ENST00000307149.5	-	13	1904	c.1719G>A	c.(1717-1719)cgG>cgA	p.R573R		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	573					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCTGGTTAAGCCGAGTCAGCG	0.512																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1717-1719)cgG>cgA		component of oligomeric golgi complex 7							88.0	76.0	80.0					16																	23415099		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23415099C>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1719G>A	16.37:g.23415099C>T							p.R573R	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	13	1904	-			573					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.1719G>A	CCDS10610.1																																																																																				0.512	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			28	35	0	0	0	1	0	28	35				
ATP13A4	84239	broad.mit.edu	37	3	193120622	193120622	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr3:193120622A>C	ENST00000342695.4	-	30	3732	c.3410T>G	c.(3409-3411)aTg>aGg	p.M1137R	ATP13A4_ENST00000392443.3_Missense_Mutation_p.M1118R|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.M153R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1137						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTAATCATCATCCACAGGGC	0.448																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3409-3411)aTg>aGg		ATPase type 13A4							78.0	75.0	76.0					3																	193120622		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193120622A>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3410T>G	3.37:g.193120622A>C	ENSP00000339182:p.Met1137Arg					ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.M1118R|ATP13A4_ENST00000400270.2_Missense_Mutation_p.M153R	p.M1137R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	30	3732	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1137					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3410T>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	7.297	0.612188	0.14066	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.44482	0.92;0.92;0.92	5.3	2.81	0.32909	.	0.670565	0.15299	N	0.269731	T	0.18882	0.0453	N	0.08118	0	0.31141	N	0.706615	B	0.20671	0.047	B	0.23716	0.048	T	0.23404	-1.0189	10	0.16420	T	0.52	-13.6893	4.2261	0.10580	0.6861:0.0:0.166:0.148	.	1137	Q4VNC1	AT134_HUMAN	R	153;1118;1137	ENSP00000383129:M153R;ENSP00000376238:M1118R;ENSP00000339182:M1137R	ENSP00000339182:M1137R	M	-	2	0	ATP13A4	194603316	0.206000	0.23470	0.531000	0.27976	0.172000	0.22775	1.053000	0.30442	0.378000	0.24764	0.486000	0.48141	ATG		0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		10	65	0	0	0	1	0	10	65				
EIF2AK3	9451	broad.mit.edu	37	2	88858450	88858450	+	Silent	SNP	C	C	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:88858450C>T	ENST00000303236.3	-	16	3436	c.3135G>A	c.(3133-3135)caG>caA	p.Q1045Q	EIF2AK3_ENST00000419748.1_Silent_p.Q894Q|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1045	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AAGGATATTTCTGAGTAAATA	0.313																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(3133-3135)caG>caA		eukaryotic translation initiation factor 2-alpha kinase 3							54.0	56.0	55.0					2																	88858450		2202	4300	6502	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88858450C>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3135G>A	2.37:g.88858450C>T						AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Silent_p.Q894Q	p.Q1045Q	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			16	3436	-			1045			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.3135G>A	CCDS33241.1																																																																																				0.313	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		15	16	0	0	0	1	0	15	16				
GRM8	2918	broad.mit.edu	37	7	126173748	126173748	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:126173748T>A	ENST00000339582.2	-	9	2496	c.1688A>T	c.(1687-1689)aAc>aTc	p.N563I	GRM8_ENST00000444921.2_Missense_Mutation_p.N563I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.N563I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	563					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCGGTTCATGTTGGGTCTCTG	0.522										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1687-1689)aAc>aTc		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						147.0	131.0	136.0					7																	126173748		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173748T>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1688A>T	7.37:g.126173748T>A	ENSP00000344173:p.Asn563Ile	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.N563I|GRM8_ENST00000358373.3_Missense_Mutation_p.N563I|GRM8_ENST00000480995.1_5'UTR	p.N563I			O00222	GRM8_HUMAN			9	2496	-		Prostate(267;0.186)	563					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1688A>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350353	0.61183	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.91792	-2.83;-2.83;-2.91	5.8	5.8	0.92144	.	0.043282	0.85682	D	0.000000	D	0.93284	0.7860	M	0.83603	2.65	0.80722	D	1	P;B	0.49559	0.925;0.446	P;B	0.44990	0.466;0.271	D	0.94011	0.7284	10	0.66056	D	0.02	.	15.3289	0.74190	0.0:0.0:0.0:1.0	.	563;563	O00222-2;O00222	.;GRM8_HUMAN	I	563	ENSP00000344173:N563I;ENSP00000409790:N563I;ENSP00000351142:N563I	ENSP00000344173:N563I	N	-	2	0	GRM8	125960984	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	5.152000	0.64882	2.226000	0.72624	0.523000	0.50628	AAC		0.522	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			32	70	0	0	0	1	0	32	70				
DACT1	51339	broad.mit.edu	37	14	59112257	59112257	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:59112257T>C	ENST00000335867.4	+	4	940	c.916T>C	c.(916-918)Tgc>Cgc	p.C306R	DACT1_ENST00000541264.2_Missense_Mutation_p.C25R|DACT1_ENST00000395153.3_Missense_Mutation_p.C269R|DACT1_ENST00000556859.1_Missense_Mutation_p.C25R			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	306					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAGTGACATTTGCGGTGGATC	0.522																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(805-807)Tgc>Cgc		dishevelled-binding antagonist of beta-catenin 1							131.0	102.0	112.0					14																	59112257		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112257T>C	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.916T>C	14.37:g.59112257T>C	ENSP00000337439:p.Cys306Arg					DACT1_ENST00000556859.1_Missense_Mutation_p.C25R|DACT1_ENST00000395151.3_Missense_Mutation_p.C25R|DACT1_ENST00000541264.2_Missense_Mutation_p.C25R|DACT1_ENST00000335867.4_Missense_Mutation_p.C306R	p.C269R	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	952	+			306					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.805T>C	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	T	7.351	0.622951	0.14193	.	.	ENSG00000165617	ENST00000556859;ENST00000421793;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.61	0.427	0.16489	.	0.378337	0.30771	N	0.008916	T	0.47655	0.1457	L	0.53249	1.67	0.28456	N	0.916095	B;P	0.47604	0.081;0.898	B;P	0.54499	0.022;0.754	T	0.46938	-0.9155	10	0.72032	D	0.01	-6.3389	9.967	0.41730	0.0:0.0666:0.5131:0.4203	.	269;306	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	R	25;25;25;269;306;25	ENSP00000451598:C25R;ENSP00000404297:C25R;ENSP00000378581:C25R;ENSP00000378582:C269R;ENSP00000337439:C306R;ENSP00000442850:C25R	ENSP00000337439:C306R	C	+	1	0	DACT1	58182010	0.364000	0.24997	0.001000	0.08648	0.025000	0.11179	1.715000	0.37971	0.056000	0.16144	0.460000	0.39030	TGC		0.522	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		45	31	0	0	0	1	0	45	31				
ATG2B	55102	broad.mit.edu	37	14	96792231	96792231	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr14:96792231T>C	ENST00000359933.4	-	15	3085	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	731					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATGTGAATCATCTAGAAACAC	0.348																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2191-2193)gAt>gGt		autophagy related 2B							83.0	75.0	78.0					14																	96792231		1921	4117	6038	SO:0001583	missense	55102							g.chr14:96792231T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2192A>G	14.37:g.96792231T>C	ENSP00000353010:p.Asp731Gly						p.D731G	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	15	3085	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	731					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2192A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489312	0.84962	.	.	ENSG00000066739	ENST00000359933	T	0.11821	2.74	5.6	5.6	0.85130	.	0.000000	0.37304	U	0.002141	T	0.33000	0.0848	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02098	-1.1214	10	0.25106	T	0.35	.	15.7992	0.78439	0.0:0.0:0.0:1.0	.	731	Q96BY7	ATG2B_HUMAN	G	731	ENSP00000353010:D731G	ENSP00000353010:D731G	D	-	2	0	ATG2B	95861984	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.474000	0.81024	2.143000	0.66587	0.460000	0.39030	GAT		0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		38	34	0	0	0	1	0	38	34				
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	lincRNA	DEL	AAC	AAC	-	rs140309984|rs145869340		TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345																																						ENST00000423385.1																			0																																																			0							g.chr1:142803276_142803278delAAC																													1.37:g.142803285_142803287delAAC														0	1687_1689	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.345	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	3						3	3	---	---	---	---
CD302	9936	broad.mit.edu	37	2	160637475	160637477	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr2:160637475_160637477delTTC	ENST00000259053.4	-	3	254_256	c.211_213delGAA	c.(211-213)gaadel	p.E71del	LY75-CD302_ENST00000504764.1_In_Frame_Del_p.E1712del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|CD302_ENST00000429078.2_In_Frame_Del_p.E71del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_In_Frame_Del_p.E1712del	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	71	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.E71Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TAAAAGCATTTTCTTCTTCATTA	0.335																																						ENST00000504764.1																			1	Substitution - Missense(1)	p.E71Q(1)	lung(1)								c.(5134-5136)del																																						SO:0001651	inframe_deletion	100526664				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160637475_160637477delTTC	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.211_213delGAA	2.37:g.160637481_160637483delTTC	ENSP00000259053:p.Glu71del					CD302_ENST00000259053.4_In_Frame_Del_p.E71del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|LY75_ENST00000554112.1_In_Frame_Del_p.E1712del|CD302_ENST00000429078.2_In_Frame_Del_p.E71del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|CD302_ENST00000480212.1_5'UTR	p.E1712del	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN			36	5161_5163	-			1580					A8K5G4|B4E2T9|Q15009	In_Frame_Del	DEL	ENST00000259053.4	37	c.5134_5136delGAA	CCDS33308.1																																																																																				0.335	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		43	26						43	26	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155572056	155572057	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr6:155572056_155572057insT	ENST00000461783.3	+	24	5234_5235	c.3961_3962insT	c.(3961-3963)cttfs	p.L1321fs	TIAM2_ENST00000456144.1_Frame_Shift_Ins_p.L1350fs|TIAM2_ENST00000318981.5_Frame_Shift_Ins_p.L1321fs|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000367174.2_Frame_Shift_Ins_p.L697fs|TIAM2_ENST00000275246.7_Frame_Shift_Ins_p.L246fs|TIAM2_ENST00000456877.2_Frame_Shift_Ins_p.L633fs|TIAM2_ENST00000528391.2_Frame_Shift_Ins_p.L657fs|TIAM2_ENST00000360366.4_Frame_Shift_Ins_p.L1345fs|TIAM2_ENST00000529824.2_Frame_Shift_Ins_p.L1350fs			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1321					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGTAACAGAACTTTCGATGGGA	0.421																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3961-3963)ttcfs		T-cell lymphoma invasion and metastasis 2																																				SO:0001589	frameshift_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155572056_155572057insT		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3964dupT	6.37:g.155572059_155572059dupT	ENSP00000437188:p.Leu1321fs					TIAM2_ENST00000528391.2_Frame_Shift_Ins_p.F657fs|TIAM2_ENST00000456144.1_Frame_Shift_Ins_p.F1350fs|TIAM2_ENST00000318981.5_Frame_Shift_Ins_p.F1321fs|TIAM2_ENST00000367174.2_Frame_Shift_Ins_p.F697fs|TIAM2_ENST00000456877.2_Frame_Shift_Ins_p.F633fs|TIAM2_ENST00000275246.7_Frame_Shift_Ins_p.F246fs|TIAM2_ENST00000529824.2_Frame_Shift_Ins_p.F1350fs|TIAM2_ENST00000360366.4_Frame_Shift_Ins_p.F1345fs	p.F1321fs			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	24	5234_5235	+		Ovarian(120;0.196)	1321					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Frame_Shift_Ins	INS	ENST00000461783.3	37	c.3961_3962insT	CCDS34558.1																																																																																				0.421	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		45	66						45	66	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						TCCTTTGGGGatatatatatat	0.302																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														5387							g.chr7:75145720_75145721delAT	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145730_75145731delAT								NR_028059.1						0	618	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.302	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		2	4						2	4	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150233	133150233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr8:133150233delT	ENST00000388996.4	-	12	2019	c.1599delA	c.(1597-1599)aaafs	p.K533fs	KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTCCTTGAATTTTTTTTTAT	0.453																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1597-1599)aafs		potassium voltage-gated channel, KQT-like subfamily, member 3							103.0	101.0	102.0					8																	133150233		2203	4300	6503	SO:0001589	frameshift_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150233delT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1599delA	8.37:g.133150233delT	ENSP00000373648:p.Lys533fs					KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs	p.K533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2019	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533					A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Del	DEL	ENST00000388996.4	37	c.1599delA	CCDS34943.1																																																																																				0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		7	185						7	185	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			4	7						4	7	---	---	---	---
TFCP2	7024	broad.mit.edu	37	12	51566196	51566196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:51566196delC	ENST00000257915.5	-	1	468	c.10delG	c.(10-12)gctfs	p.A4fs	TFCP2_ENST00000548115.1_Frame_Shift_Del_p.A4fs|TFCP2_ENST00000307660.4_Frame_Shift_Del_p.A4fs|TFCP2_ENST00000549867.1_Frame_Shift_Del_p.A4fs	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	4					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGCTTCAGAGCCCAGGCCATC	0.577																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(10-12)ctfs		transcription factor CP2							90.0	85.0	87.0					12																	51566196		2203	4300	6503	SO:0001589	frameshift_variant	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51566196delC	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.10delG	12.37:g.51566196delC	ENSP00000257915:p.Ala4fs					TFCP2_ENST00000549867.1_Frame_Shift_Del_p.A4fs|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.A4fs|TFCP2_ENST00000257915.5_Frame_Shift_Del_p.A4fs	p.A4fs	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			1	730	-			4					A8K5E9|Q12801|Q9UD75|Q9UD77	Frame_Shift_Del	DEL	ENST00000257915.5	37	c.10delG	CCDS8808.1																																																																																				0.577	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		30	61						30	61	---	---	---	---
LDHAL6CP	121498	broad.mit.edu	37	12	63398006	63398007	+	lincRNA	DEL	AA	AA	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr12:63398006_63398007delAA	ENST00000552996.1	-	0	1070				LDHAL6CP_ENST00000550738.1_RNA																							TTCATTGGACAAAAGCTTGGTA	0.46																																						ENST00000550738.1																			0																																																			121498							g.chr12:63398006_63398007delAA																													12.37:g.63398008_63398009delAA														0	548_549	+									RNA	DEL	ENST00000552996.1	37																																																																																						0.460	RP11-848D3.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000406731.1			25	39						25	39	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		7	1205						7	1205	---	---	---	---
RAPGEFL1	51195	broad.mit.edu	37	17	38340867	38340867	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr17:38340867delT	ENST00000456989.2	+	4	363	c.317delT	c.(316-318)cttfs	p.L106fs	RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000436615.3_Frame_Shift_Del_p.L51fs|RAPGEFL1_ENST00000544503.1_Frame_Shift_Del_p.L100fs|RAPGEFL1_ENST00000264644.6_Frame_Shift_Del_p.L51fs			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	257	Gly-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GACGAGTCCCTTTACCAGGGC	0.567																																					Esophageal Squamous(28;274 750 6870 14218 42203)	ENST00000436615.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(151-153)ctfs		Rap guanine nucleotide exchange factor (GEF)-like 1							34.0	28.0	30.0					17																	38340867		2203	4300	6503	SO:0001589	frameshift_variant	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38340867delT	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.317delT	17.37:g.38340867delT	ENSP00000394530:p.Leu106fs					RAPGEFL1_ENST00000264644.6_Frame_Shift_Del_p.L51fs|RAPGEFL1_ENST00000544503.1_Frame_Shift_Del_p.L100fs|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000456989.2_Frame_Shift_Del_p.L106fs	p.L51fs	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN			4	642	+			257			Gly-rich.			Frame_Shift_Del	DEL	ENST00000456989.2	37	c.152delT																																																																																					0.567	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		2	4						2	4	---	---	---	---
IGLV1-50	28821	broad.mit.edu	37	22	22681921	22681921	+	RNA	DEL	C	C	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chr22:22681921delC	ENST00000390291.2	+	0	154									immunoglobulin lambda variable 1-50 (non-functional)																		GGCCCCAGGGCAGAGGGTCAC	0.597																																						ENST00000390291.2																			0																				90.0	96.0	94.0					22																	22681921		1888	4105	5993			28821							g.chr22:22681921delC	M94112		22q11.2	2012-02-08	2008-09-15		ENSG00000211645	ENSG00000211645		"""Immunoglobulins / IGL locus"""	5881	other	immunoglobulin gene			"""immunoglobulin lambda variable 1-50"""				Standard	NG_000002		Approved				OTTHUMG00000151051		22.37:g.22681921delC														0	154	+									RNA	DEL	ENST00000390291.2	37																																																																																						0.597	IGLV1-50-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321111.3	NG_000002		65	110						65	110	---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1585382	1585382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A61G-01A-11D-A30E-08	TCGA-IQ-A61G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04522aa6-0bb7-47fd-af3f-b3e2d8937f76	0584501b-8e3d-422f-94d7-d2529d73640a	g.chrX:1585382delC	ENST00000381297.4	-	2	280	c.70delG	c.(70-72)gtgfs	p.V24fs	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCAGGGCCACCGCGATCGCC	0.706			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(70-72)tgfs		purinergic receptor P2Y, G-protein coupled, 8							34.0	38.0	37.0					X																	1585382		2202	4294	6496	SO:0001589	frameshift_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1585382delC	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.70delG	X.37:g.1585382delC	ENSP00000370697:p.Val24fs					P2RY8_ENST00000460672.1_5'UTR	p.V24fs	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	280	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	24						Frame_Shift_Del	DEL	ENST00000381297.4	37	c.70delG	CCDS14115.1																																																																																				0.706	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		25	26						25	26	---	---	---	---
