#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
SCN3A	6328	broad.mit.edu	37	2	166032861	166032861	+	Missense_Mutation	SNP	C	C	T	rs139769668	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:166032861C>T	ENST00000360093.3	-	3	535	c.44G>A	c.(43-45)cGc>cAc	p.R15H	SCN3A_ENST00000283254.7_Missense_Mutation_p.R15H|SCN3A_ENST00000409101.3_Missense_Mutation_p.R15H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	15					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R15H(2)		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)	AGTAAAAAGGCGGAAGCTTTC	0.428													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16749	0.0		0.0	False		,,,				2504	0.0					ENST00000360093.3																			2	Substitution - Missense(2)	p.R15H(2)	lung(2)	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.(43-45)cGc>cAc		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)	C	HIS/ARG,HIS/ARG,HIS/ARG	13,4393	20.2+/-43.8	0,13,2190	123.0	122.0	123.0		44,44,44	4.4	1.0	2	dbSNP_134	123	0,8600		0,0,4300	yes	missense,missense,missense	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	29,29,29	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	possibly-damaging,possibly-damaging,possibly-damaging	15/1952,15/1952,15/2001	166032861	13,12993	2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166032861C>T	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.44G>A	2.37:g.166032861C>T	ENSP00000353206:p.Arg15His					SCN3A_ENST00000409101.3_Missense_Mutation_p.R15H|SCN3A_ENST00000283254.7_Missense_Mutation_p.R15H	p.R15H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			3	535	-			15					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.44G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.48	3.834711	0.71373	0.002951	0.0	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;T	0.96885	-4.16;-4.16;-4.11;-3.97;7.99	5.32	4.45	0.53987	.	0.198976	0.36167	N	0.002753	D	0.95915	0.8670	M	0.86268	2.805	0.80722	D	1	B;B;B	0.18166	0.026;0.026;0.012	B;B;B	0.14023	0.01;0.01;0.008	D	0.94397	0.7619	10	0.54805	T	0.06	.	14.1898	0.65630	0.0:0.9275:0.0:0.0725	.	15;15;15	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	H	15	ENSP00000353206:R15H;ENSP00000283254:R15H;ENSP00000386726:R15H;ENSP00000403348:R15H;ENSP00000391569:R15H	ENSP00000283254:R15H	R	-	2	0	SCN3A	165741107	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.726000	0.25984	1.390000	0.46547	0.467000	0.42956	CGC		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		9	82	0	0	0	1	0	9	82				
KRT9	3857	broad.mit.edu	37	17	39725792	39725792	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:39725792C>T	ENST00000246662.4	-	4	995	c.930G>A	c.(928-930)gaG>gaA	p.E310E	KRT9_ENST00000588431.1_Silent_p.E77E	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	310	Linker 12.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CAACGTTTATCTCCACATTGA	0.502																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(928-930)gaG>gaA		keratin 9							193.0	157.0	169.0					17																	39725792		2203	4300	6503	SO:0001819	synonymous_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725792C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.930G>A	17.37:g.39725792C>T						KRT9_ENST00000588431.1_Silent_p.E77E	p.E310E	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			4	995	-		Breast(137;0.000307)	310			Linker 12.|Rod.		O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	c.930G>A	CCDS32654.1																																																																																				0.502	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		27	39	0	0	0	1	0	27	39				
SPATA5	166378	broad.mit.edu	37	4	123949451	123949451	+	Silent	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:123949451A>G	ENST00000274008.4	+	11	2049	c.1980A>G	c.(1978-1980)ccA>ccG	p.P660P	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	660					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTATTCAGCCACCTAAAGGAG	0.438																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1978-1980)ccA>ccG		spermatogenesis associated 5							132.0	128.0	129.0					4																	123949451		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123949451A>G	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1980A>G	4.37:g.123949451A>G						SPATA5_ENST00000422835.2_3'UTR	p.P660P	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			11	2049	+			660					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.1980A>G	CCDS3730.1																																																																																				0.438	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		4	96	0	0	0	1	0	4	96				
TRPV5	56302	broad.mit.edu	37	7	142622745	142622745	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:142622745G>A	ENST00000265310.1	-	8	1349	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	TRPV5_ENST00000442623.1_Missense_Mutation_p.A334V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	334					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGGTACAAGGCAGCCAGGAT	0.552																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1000-1002)gCc>gTc		transient receptor potential cation channel, subfamily V, member 5							153.0	126.0	135.0					7																	142622745		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142622745G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1001C>T	7.37:g.142622745G>A	ENSP00000265310:p.Ala334Val					TRPV5_ENST00000442623.1_Missense_Mutation_p.A334V	p.A334V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			8	1349	-	Melanoma(164;0.059)		334					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1001C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	2.620	-0.288887	0.05605	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.60171	0.21;0.21;0.21	5.18	4.29	0.51040	.	0.912731	0.09563	N	0.785352	T	0.53530	0.1802	L	0.55743	1.74	0.19945	N	0.999941	B;B	0.31790	0.127;0.34	B;B	0.36186	0.027;0.219	T	0.43097	-0.9412	10	0.14656	T	0.56	-15.9119	10.0032	0.41942	0.1747:0.0:0.8253:0.0	.	334;334	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	V	334;279;334	ENSP00000265310:A334V;ENSP00000406361:A279V;ENSP00000406572:A334V	ENSP00000265310:A334V	A	-	2	0	TRPV5	142332867	0.028000	0.19301	0.271000	0.24616	0.640000	0.38277	1.882000	0.39648	1.288000	0.44600	0.655000	0.94253	GCC		0.552	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		5	58	0	0	0	1	0	5	58				
OLFM3	118427	broad.mit.edu	37	1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:102290602C>T	ENST00000338858.5	-	4	631	c.632G>A	c.(631-633)cGt>cAt	p.R211H	OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.R191H			Q96PB7	NOE3_HUMAN	olfactomedin 3	211					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(571-573)cGt>cAt		olfactomedin 3							135.0	129.0	131.0					1																	102290602		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290602C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.632G>A	1.37:g.102290602C>T	ENSP00000345192:p.Arg211His					OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H	p.R191H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	785	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	211					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.572G>A		.	.	.	.	.	.	.	.	.	.	C	14.36	2.513548	0.44763	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88509	-2.37;-2.39;-0.95;0.42	5.86	5.86	0.93980	.	0.053965	0.85682	D	0.000000	T	0.75576	0.3868	N	0.20766	0.605	0.39718	D	0.971433	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.0	T	0.69327	-0.5174	10	0.24483	T	0.36	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	191;211	Q5T3V6;Q96PB7	.;NOE3_HUMAN	H	62;191;211;116;211	ENSP00000359121:R191H;ENSP00000345192:R211H;ENSP00000443471:R116H;ENSP00000352867:R211H	ENSP00000345192:R211H	R	-	2	0	OLFM3	102063190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.039000	0.57325	2.777000	0.95525	0.655000	0.94253	CGT		0.373	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			4	41	0	0	0	1	0	4	41				
ODAM	54959	broad.mit.edu	37	4	71063863	71063863	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:71063863G>T	ENST00000396094.2	+	4	412	c.364G>T	c.(364-366)Ggc>Tgc	p.G122C		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	122	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GACACAACCAGGCCCCAGTCA	0.473																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(364-366)Ggc>Tgc		odontogenic, ameloblast asssociated							79.0	82.0	81.0					4																	71063863		1907	4116	6023	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063863G>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.364G>T	4.37:g.71063863G>T	ENSP00000379401:p.Gly122Cys						p.G122C	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			4	412	+			122			Gln-rich.		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.364G>T	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067166	0.20067	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.50813	0.73;0.73	4.9	1.87	0.25490	.	.	.	.	.	T	0.50905	0.1643	L	0.38175	1.15	0.09310	N	1	D	0.69078	0.997	D	0.63192	0.912	T	0.35301	-0.9794	9	0.72032	D	0.01	-1.3127	5.967	0.19330	0.3833:0.0:0.6167:0.0	.	122	A1E959	ODAM_HUMAN	C	122;108;75	ENSP00000379401:G122C;ENSP00000426106:G75C	ENSP00000379401:G122C	G	+	1	0	ODAM	71098452	0.019000	0.18553	0.002000	0.10522	0.021000	0.10359	1.182000	0.32029	0.145000	0.18977	0.561000	0.74099	GGC		0.473	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		15	115	1	0	2.61681e-11	1	2.92772e-11	15	115				
CDKN2A	1029	broad.mit.edu	37	9	21974799	21974799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:21974799C>A	ENST00000304494.5	-	1	298	c.28G>T	c.(28-30)Gag>Tag	p.E10*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	10					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.P3_P11del(2)|p.0(1)|p.S7_A19del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCGAAGGCTCCATGCTGCTC	0.771		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1342	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(3)	p.0?(1315)|p.?(23)|p.P3_P11del(2)|p.0(1)|p.S7_A19del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(28-30)Gag>Tag		cyclin-dependent kinase inhibitor 2A							10.0	13.0	12.0					9																	21974799		1794	3718	5512	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974799C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.28G>T	9.37:g.21974799C>A	ENSP00000307101:p.Glu10*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000498628.2_Intron	p.E10*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	298	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	10					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.28G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401188	0.42613	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	0.377	-0.753	0.11068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	.	.	.	.	.	.	.	X	10	.	ENSP00000307101:E10X	E	-	1	0	CDKN2A	21964799	0.404000	0.25328	0.001000	0.08648	0.001000	0.01503	2.767000	0.47637	-0.531000	0.06340	-0.540000	0.04249	GAG		0.771	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		26	11	1	0	5.61819e-17	1	6.41268e-17	26	11				
ASXL2	55252	broad.mit.edu	37	2	25964902	25964902	+	Missense_Mutation	SNP	C	C	T	rs542810776		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:25964902C>T	ENST00000435504.4	-	13	4597	c.4304G>A	c.(4303-4305)cGg>cAg	p.R1435Q	ASXL2_ENST00000336112.4_Missense_Mutation_p.R1407Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.R918Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.R918Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1435					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTCATTACCGAACGACAAG	0.488																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(4303-4305)cGg>cAg		additional sex combs like 2 (Drosophila)							78.0	76.0	77.0					2																	25964902		1956	4162	6118	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25964902C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.4304G>A	2.37:g.25964902C>T	ENSP00000391447:p.Arg1435Gln					ASXL2_ENST00000272341.4_Missense_Mutation_p.R918Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.R918Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.R1407Q	p.R1435Q			Q76L83	ASXL2_HUMAN			13	4597	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1435					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.4304G>A		.	.	.	.	.	.	.	.	.	.	c	22.4	4.287970	0.80803	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.56275	0.48;0.47;0.49;0.49	6.07	5.2	0.72013	.	0.060207	0.64402	N	0.000002	T	0.53867	0.1823	N	0.08118	0	0.42790	D	0.993897	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	T	0.65274	-0.6208	10	0.87932	D	0	.	14.3827	0.66921	0.0:0.9291:0.0:0.0709	.	918;1435	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	1435;1407;918;918	ENSP00000391447:R1435Q;ENSP00000337250:R1407Q;ENSP00000383920:R918Q;ENSP00000272341:R918Q	ENSP00000272341:R918Q	R	-	2	0	ASXL2	25818406	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.663000	0.61532	1.595000	0.50050	-0.119000	0.15052	CGG		0.488	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	63	0	0	0	1	0	9	63				
LCLAT1	253558	broad.mit.edu	37	2	30682532	30682532	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:30682532C>T	ENST00000309052.4	+	2	263	c.54C>T	c.(52-54)aaC>aaT	p.N18N	LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000359433.1_Silent_p.N18N|LCLAT1_ENST00000379509.3_Intron|LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000319406.4_Silent_p.N18N	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	18					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGTCAATTAACGAGGCAGTTT	0.428																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(52-54)aaC>aaT		lysocardiolipin acyltransferase 1							265.0	251.0	256.0					2																	30682532		2203	4300	6503	SO:0001819	synonymous_variant	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30682532C>T	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.54C>T	2.37:g.30682532C>T						LCLAT1_ENST00000319406.4_Silent_p.N18N|LCLAT1_ENST00000359433.1_Silent_p.N18N|LCLAT1_ENST00000379509.3_Intron|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000540623.1_5'UTR	p.N18N	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			2	263	+			18					A6H8Z7|Q8N1Q7	Silent	SNP	ENST00000309052.4	37	c.54C>T	CCDS1772.1																																																																																				0.428	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		9	195	0	0	0	1	0	9	195				
NFATC4	4776	broad.mit.edu	37	14	24845708	24845708	+	Silent	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr14:24845708A>G	ENST00000250373.4	+	9	2406	c.2265A>G	c.(2263-2265)ccA>ccG	p.P755P	NFATC4_ENST00000557767.1_Silent_p.P43P|NFATC4_ENST00000553879.1_Silent_p.P685P|NFATC4_ENST00000555590.1_Silent_p.P768P|NFATC4_ENST00000539237.2_Silent_p.P787P|NFATC4_ENST00000554661.1_Silent_p.P685P|NFATC4_ENST00000555802.1_Silent_p.P43P|NFATC4_ENST00000556759.1_Silent_p.P290P|NFATC4_ENST00000555167.1_Silent_p.P290P|NFATC4_ENST00000554473.1_Silent_p.P290P|NFATC4_ENST00000553708.1_Silent_p.P755P|NFATC4_ENST00000424781.2_Silent_p.P768P|NFATC4_ENST00000556169.1_Silent_p.P743P|NFATC4_ENST00000554966.1_Silent_p.P768P|NFATC4_ENST00000554591.1_Silent_p.P818P|NFATC4_ENST00000413692.2_Silent_p.P818P|NFATC4_ENST00000553469.1_Silent_p.P787P|NFATC4_ENST00000556279.1_Silent_p.P787P|NFATC4_ENST00000555453.1_Silent_p.P743P|NFATC4_ENST00000555393.1_Silent_p.P43P|NFATC4_ENST00000557451.1_Silent_p.P685P|NFATC4_ENST00000554344.1_Silent_p.P685P|NFATC4_ENST00000422617.3_Silent_p.P743P|NFATC4_ENST00000554050.1_Silent_p.P755P	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	755	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGGGCCCCCACCATCCTACA	0.607																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2452-2454)ccA>ccG		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							43.0	48.0	46.0					14																	24845708		2203	4300	6503	SO:0001819	synonymous_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845708A>G	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2265A>G	14.37:g.24845708A>G						NFATC4_ENST00000556759.1_Silent_p.P290P|NFATC4_ENST00000553708.1_Silent_p.P755P|NFATC4_ENST00000556279.1_Silent_p.P787P|NFATC4_ENST00000553879.1_Silent_p.P685P|NFATC4_ENST00000554473.1_Silent_p.P290P|NFATC4_ENST00000539237.2_Silent_p.P787P|NFATC4_ENST00000424781.2_Silent_p.P768P|NFATC4_ENST00000555802.1_Silent_p.P43P|NFATC4_ENST00000554661.1_Silent_p.P685P|NFATC4_ENST00000554591.1_Silent_p.P818P|NFATC4_ENST00000250373.4_Silent_p.P755P|NFATC4_ENST00000422617.3_Silent_p.P743P|NFATC4_ENST00000554050.1_Silent_p.P755P|NFATC4_ENST00000554966.1_Silent_p.P768P|NFATC4_ENST00000555590.1_Silent_p.P768P|NFATC4_ENST00000556169.1_Silent_p.P743P|NFATC4_ENST00000557451.1_Silent_p.P685P|NFATC4_ENST00000557767.1_Silent_p.P43P|NFATC4_ENST00000553469.1_Silent_p.P787P|NFATC4_ENST00000555393.1_Silent_p.P43P|NFATC4_ENST00000555453.1_Silent_p.P743P|NFATC4_ENST00000555167.1_Silent_p.P290P|NFATC4_ENST00000554344.1_Silent_p.P685P	p.P818P	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	10	2598	+			755			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	c.2454A>G	CCDS9629.1																																																																																				0.607	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		4	60	0	0	0	1	0	4	60				
SACS	26278	broad.mit.edu	37	13	23909221	23909221	+	Missense_Mutation	SNP	G	G	A	rs370913893		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr13:23909221G>A	ENST00000382292.3	-	9	9067	c.8794C>T	c.(8794-8796)Cgg>Tgg	p.R2932W	SACS_ENST00000382298.3_Missense_Mutation_p.R2932W|SACS_ENST00000402364.1_Missense_Mutation_p.R2182W			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2932					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGAAATACCGTTTTTTTAAC	0.353																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8794-8796)Cgg>Tgg		spastic ataxia of Charlevoix-Saguenay (sacsin)							118.0	118.0	118.0					13																	23909221		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909221G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8794C>T	13.37:g.23909221G>A	ENSP00000371729:p.Arg2932Trp					SACS_ENST00000382292.3_Missense_Mutation_p.R2932W|SACS_ENST00000402364.1_Missense_Mutation_p.R2182W	p.R2932W	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9382	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2932					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8794C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815046	0.70912	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88664	-2.22;-2.41;-2.22	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	L	0.36672	1.1	0.41174	D	0.986187	D	0.89917	1.0	D	0.72075	0.976	D	0.91841	0.5483	10	0.87932	D	0	.	13.3544	0.60619	0.0:0.0:0.7222:0.2777	.	2932	Q9NZJ4	SACS_HUMAN	W	2932;2182;2932	ENSP00000371729:R2932W;ENSP00000385844:R2182W;ENSP00000371735:R2932W	ENSP00000371729:R2932W	R	-	1	2	SACS	22807221	0.998000	0.40836	0.998000	0.56505	0.985000	0.73830	2.852000	0.48310	2.525000	0.85131	0.555000	0.69702	CGG		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		4	96	0	0	0	1	0	4	96				
VN1R4	317703	broad.mit.edu	37	19	53770752	53770752	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:53770752G>C	ENST00000311170.4	-	1	220	c.167C>G	c.(166-168)gCt>gGt	p.A56G	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	56					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACAGCGGAGAGCTAAGAAGTT	0.438										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(166-168)gCt>gGt		vomeronasal 1 receptor 4							40.0	41.0	40.0					19																	53770752		2203	4297	6500	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770752G>C	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.167C>G	19.37:g.53770752G>C	ENSP00000310856:p.Ala56Gly	HNSCC(26;0.072)					p.A56G	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	220	-			56					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.167C>G	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	G	7.536	0.659744	0.14645	.	.	ENSG00000228567	ENST00000311170	T	0.09630	2.96	2.27	-4.54	0.03452	GPCR, rhodopsin-like superfamily (1);	3.689560	0.01268	N	0.009364	T	0.09686	0.0238	L	0.38838	1.175	0.09310	N	1	B	0.11235	0.004	B	0.19391	0.025	T	0.35450	-0.9788	10	0.62326	D	0.03	.	5.5736	0.17210	0.6673:0.0:0.1784:0.1543	.	56	Q7Z5H5	VN1R4_HUMAN	G	56	ENSP00000310856:A56G	ENSP00000310856:A56G	A	-	2	0	VN1R4	58462564	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.572000	0.00912	-1.358000	0.02177	-0.281000	0.10026	GCT		0.438	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		7	42	0	0	0	1	0	7	42				
ZCCHC24	219654	broad.mit.edu	37	10	81146100	81146100	+	3'UTR	SNP	G	G	A	rs140265942		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:81146100G>A	ENST00000372336.3	-	0	913				ZCCHC24_ENST00000372333.3_Missense_Mutation_p.T183M|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CGGGCAGCCCGTCACTGCACG	0.701																																						ENST00000372333.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						c.(547-549)aCg>aTg		zinc finger, CCHC domain containing 24		G		0,4406		0,0,2203	34.0	29.0	31.0			1.8	0.0	10	dbSNP_134	31	1,8597	1.2+/-3.3	0,1,4298	no	utr-3	ZCCHC24	NM_153367.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077			81146100	1,13003	2203	4299	6502	SO:0001624	3_prime_UTR_variant	219654						nucleic acid binding|zinc ion binding	g.chr10:81146100G>A	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.*1C>T	10.37:g.81146100G>A						ZCCHC24_ENST00000372336.3_3'UTR|RP11-342M3.5_ENST00000438554.2_RNA	p.T183M			Q8N2G6	ZCH24_HUMAN			4	598	-			47					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.548C>T	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	G	6.291	0.421858	0.11928	0.0	1.16E-4	ENSG00000165424	ENST00000372333	.	.	.	4.85	1.84	0.25277	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.09310	N	0.999999	D	0.76494	0.999	P	0.59288	0.855	T	0.38436	-0.9661	7	0.87932	D	0	.	3.3267	0.07070	0.0879:0.2754:0.4394:0.1974	.	183	Q5W133	.	M	183	.	ENSP00000361408:T183M	T	-	2	0	ZCCHC24	80816106	0.778000	0.28640	0.042000	0.18584	0.102000	0.19082	0.847000	0.27696	0.208000	0.20626	0.655000	0.94253	ACG		0.701	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		3	28	0	0	0	1	0	3	28				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	42	0	0	0	1	0	3	42				
REG1A	5967	broad.mit.edu	37	2	79348732	79348732	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:79348732C>T	ENST00000233735.1	+	3	212	c.109C>T	c.(109-111)Cca>Tca	p.P37S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	37	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.P37A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GATCAGCTGCCCAGAAGGCAC	0.527																																						ENST00000233735.1																			1	Substitution - Missense(1)	p.P37A(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(109-111)Cca>Tca		regenerating islet-derived 1 alpha							176.0	180.0	179.0					2																	79348732		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348732C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.109C>T	2.37:g.79348732C>T	ENSP00000233735:p.Pro37Ser						p.P37S	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			3	212	+			37			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.109C>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	17.85	3.490523	0.64074	.	.	ENSG00000115386	ENST00000233735	T	0.11930	2.73	2.85	2.85	0.33270	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.38778	N	0.001568	T	0.41511	0.1162	M	0.92507	3.315	0.09310	N	0.999996	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.23190	-1.0195	10	0.72032	D	0.01	.	9.368	0.38237	0.0:1.0:0.0:0.0	.	37;37	A8K7G6;P05451	.;REG1A_HUMAN	S	37	ENSP00000233735:P37S	ENSP00000233735:P37S	P	+	1	0	REG1A	79202240	0.091000	0.21658	0.213000	0.23690	0.912000	0.54170	2.928000	0.48908	1.892000	0.54788	0.563000	0.77884	CCA		0.527	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		7	278	0	0	0	1	0	7	278				
RIMS2	9699	broad.mit.edu	37	8	104709513	104709513	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:104709513C>T	ENST00000406091.3	+	2	376	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	157	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTGTCATTACGCTCAAACAA	0.373										HNSCC(12;0.0054)																												ENST00000406091.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(376-378)Cgc>Tgc		regulating synaptic membrane exocytosis 2							172.0	165.0	167.0					8																	104709513		1947	4151	6098	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104709513C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.376C>T	8.37:g.104709513C>T	ENSP00000384892:p.Arg126Cys	HNSCC(12;0.0054)					p.R126C	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	376	+			157			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	c.376C>T	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885293	0.91814	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.77489	-1.1;-1.1	5.49	5.49	0.81192	.	.	.	.	.	D	0.89167	0.6638	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90182	0.4243	9	0.87932	D	0	.	19.3601	0.94434	0.0:1.0:0.0:0.0	.	126	F8WD47	.	C	126;157;126;157	ENSP00000427018:R126C;ENSP00000384892:R126C	ENSP00000332184:R157C	R	+	1	0	RIMS2	104778689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.975000	0.70475	2.559000	0.86315	0.462000	0.41574	CGC		0.373	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		12	93	0	0	0	1	0	12	93				
SLC16A14	151473	broad.mit.edu	37	2	230911162	230911162	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:230911162C>T	ENST00000295190.4	-	4	1138	c.680G>A	c.(679-681)cGt>cAt	p.R227H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGGCAGGCCACGCACATCTTT	0.562																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(679-681)cGt>cAt		solute carrier family 16, member 14							68.0	73.0	71.0					2																	230911162		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230911162C>T	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.680G>A	2.37:g.230911162C>T	ENSP00000295190:p.Arg227His						p.R227H	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1138	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	227					A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.680G>A	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	C	3.834	-0.035089	0.07543	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.09073	3.04;3.02;3.02	4.84	-1.62	0.08372	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.675520	0.00465	N	0.000108	T	0.04092	0.0114	N	0.02802	-0.49	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.16289	0.015;0.004	T	0.37502	-0.9703	10	0.33940	T	0.23	.	6.9433	0.24504	0.0:0.1532:0.1672:0.6796	.	227;227	E7EMG7;Q7RTX9	.;MOT14_HUMAN	H	227	ENSP00000295190:R227H;ENSP00000400352:R227H;ENSP00000395775:R227H	ENSP00000295190:R227H	R	-	2	0	SLC16A14	230619406	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.515000	0.22801	-0.163000	0.10946	0.655000	0.94253	CGT		0.562	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		9	86	0	0	0	1	0	9	86				
KIAA1407	57577	broad.mit.edu	37	3	113684062	113684062	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:113684062G>A	ENST00000295878.3	-	17	2897	c.2751C>T	c.(2749-2751)caC>caT	p.H917H		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	917										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GATATAGCTCGTGGTACCTTC	0.418																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2749-2751)caC>caT		KIAA1407							135.0	138.0	137.0					3																	113684062		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113684062G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2751C>T	3.37:g.113684062G>A							p.H917H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			17	2897	-			917					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2751C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	7.682	0.689271	0.14973	.	.	ENSG00000184307	ENST00000496083	.	.	.	4.59	-0.35	0.12606	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36456	-0.9747	5	0.62326	D	0.03	.	4.1255	0.10125	0.4656:0.0:0.3709:0.1636	.	.	.	.	H	44	.	ENSP00000417579:R44H	R	+	2	0	ZDHHC23	115166752	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.276000	0.08514	0.046000	0.15833	-0.295000	0.09555	CGT		0.418	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		6	85	0	0	0	1	0	6	85				
SPP1	6696	broad.mit.edu	37	4	88903741	88903741	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:88903741C>T	ENST00000395080.3	+	7	765	c.638C>T	c.(637-639)gCg>gTg	p.A213V	SPP1_ENST00000360804.4_Missense_Mutation_p.A186V|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Missense_Mutation_p.A199V	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	213					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GACCTGAACGCGCCTTCTGAT	0.532																																						ENST00000237623.7																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13						c.(595-597)gCg>gTg		secreted phosphoprotein 1							152.0	140.0	144.0					4																	88903741		2203	4300	6503	SO:0001583	missense	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88903741C>T		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.638C>T	4.37:g.88903741C>T	ENSP00000378517:p.Ala213Val					SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Missense_Mutation_p.A186V|SPP1_ENST00000395080.3_Missense_Mutation_p.A213V	p.A199V	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	6	744	+		Hepatocellular(203;0.114)	213					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	c.596C>T	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499121	0.44455	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.14	-7.57	0.01318	.	2.351530	0.01795	N	0.032521	T	0.05135	0.0137	N	0.00436	-1.5	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.0;0.001;0.0	T	0.25572	-1.0128	10	0.23302	T	0.38	3.1773	1.4273	0.02326	0.2331:0.2499:0.3546:0.1624	.	226;172;199;186;213	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	V	191;172;199;213;186;172	ENSP00000237623:A199V;ENSP00000378517:A213V;ENSP00000354042:A186V;ENSP00000422973:A172V	ENSP00000237623:A199V	A	+	2	0	SPP1	89122765	0.000000	0.05858	0.000000	0.03702	0.532000	0.34746	-1.310000	0.02725	-1.243000	0.02519	-0.333000	0.08304	GCG		0.532	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			15	131	0	0	0	1	0	15	131				
HTR6	3362	broad.mit.edu	37	1	20005833	20005833	+	Missense_Mutation	SNP	C	C	T	rs549015054		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:20005833C>T	ENST00000289753.1	+	3	1762	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	TMCO4_ENST00000489814.1_5'Flank	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	432					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GAGCTGCGGCCGCATCCACTT	0.677																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1294-1296)cCg>cTg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						9.0	10.0	9.0					1																	20005833		1854	3737	5591	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005833C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1295C>T	1.37:g.20005833C>T	ENSP00000289753:p.Pro432Leu						p.P432L	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	3	1762	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	432					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.1295C>T	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.350952	0.01256	.	.	ENSG00000158748	ENST00000289753	T	0.49432	0.78	5.39	-3.04	0.05412	.	0.949973	0.08577	N	0.925149	T	0.19565	0.0470	N	0.08118	0	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.15867	-1.0422	9	.	.	.	.	1.9047	0.03275	0.1071:0.2772:0.2435:0.3723	.	432	P50406	5HT6R_HUMAN	L	432	ENSP00000289753:P432L	.	P	+	2	0	HTR6	19878420	0.005000	0.15991	0.150000	0.22450	0.191000	0.23601	0.013000	0.13310	-0.733000	0.04850	-0.340000	0.08031	CCG		0.677	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		3	23	0	0	0	1	0	3	23				
PIK3CG	5294	broad.mit.edu	37	7	106513012	106513012	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:106513012G>A	ENST00000359195.3	+	3	2336	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	676	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGATAGCGCCCTTGCCAG	0.393																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2026-2028)Gcc>Acc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							206.0	196.0	200.0					7																	106513012		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513012G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2026G>A	7.37:g.106513012G>A	ENSP00000352121:p.Ala676Thr					PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T	p.A676T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			3	2336	+			676					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2026G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945387	0.73672	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.64438	-0.1;-0.1;-0.1	5.62	5.62	0.85841	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.093109	0.64402	D	0.000001	T	0.64659	0.2618	M	0.66297	2.02	0.58432	D	0.999999	P	0.46656	0.882	B	0.43386	0.418	T	0.61068	-0.7137	10	0.16896	T	0.51	-25.3687	20.024	0.97514	0.0:0.0:1.0:0.0	.	676	P48736	PK3CG_HUMAN	T	676	ENSP00000392258:A676T;ENSP00000419260:A676T;ENSP00000352121:A676T	ENSP00000352121:A676T	A	+	1	0	PIK3CG	106300248	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.229000	0.72294	2.809000	0.96659	0.655000	0.94253	GCC		0.393	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			4	100	0	0	0	1	0	4	100				
TRBJ2-6	28623	broad.mit.edu	37	7	142494265	142494265	+	RNA	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:142494265T>C	ENST00000390418.1	+	0	0				TRBJ2-2P_ENST00000390414.1_RNA|TRBJ2-3_ENST00000390415.1_RNA|TRBJ2-1_ENST00000390412.1_RNA|TRBJ2-7_ENST00000390419.1_RNA|TRBJ2-2_ENST00000390413.1_RNA|TRBJ2-5_ENST00000390417.1_RNA|TRBJ2-4_ENST00000390416.1_RNA					T cell receptor beta joining 2-6																		GAGCTGTTTTTTGGAGAAGGC	0.647																																						ENST00000390413.1																			0																				34.0	40.0	38.0					7																	142494265		1870	4096	5966			28628							g.chr7:142494265T>C	X02987		7q34	2012-02-07			ENSG00000211770	ENSG00000211770		"""T cell receptors / TRB locus"""	12174	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBJ26, TCRBJ2S6			OTTHUMG00000158913		7.37:g.142494265T>C														0	22	+									RNA	SNP	ENST00000390418.1	37																																																																																						0.647	TRBJ2-6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000352528.1	NG_001333		6	42	0	0	0	1	0	6	42				
CEP131	22994	broad.mit.edu	37	17	79163626	79163626	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:79163626G>A	ENST00000269392.4	-	26	3442	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	AZI1_ENST00000374782.3_Silent_p.A1026A|AZI1_ENST00000450824.2_Silent_p.A1062A|AZI1_ENST00000575907.1_Silent_p.A1029A	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		1065					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGTGGTCGGCCCGCTTCA	0.652																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(3193-3195)gcC>gcT		5-azacytidine induced 1							92.0	92.0	92.0					17																	79163626		2203	4299	6502	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79163626G>A																												ENST00000269392.4:c.3195C>T	17.37:g.79163626G>A						AZI1_ENST00000450824.2_Silent_p.A1062A|AZI1_ENST00000575907.1_Silent_p.A1029A|AZI1_ENST00000374782.3_Silent_p.A1026A	p.A1065A	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		26	3442	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1065					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.3195C>T																																																																																					0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			14	185	0	0	0	1	0	14	185				
LIN7A	8825	broad.mit.edu	37	12	81205345	81205345	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:81205345C>T	ENST00000552864.1	-	5	803	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	201					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CGTAGCTTTTCAAAGCGAGCC	0.498																																						ENST00000552864.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(601-603)Gaa>Aaa		lin-7 homolog A (C. elegans)							103.0	90.0	94.0					12																	81205345		2203	4300	6503	SO:0001583	missense	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81205345C>T	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.601G>A	12.37:g.81205345C>T	ENSP00000447488:p.Glu201Lys						p.E201K	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN			5	803	-			201					A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	c.601G>A	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062802	0.93898	.	.	ENSG00000111052	ENST00000552864	T	0.18657	2.2	5.28	4.39	0.52855	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.38175	1.15	0.80722	D	1	P	0.47841	0.901	P	0.45681	0.49	T	0.01753	-1.1281	10	0.66056	D	0.02	-11.5182	13.9247	0.63955	0.0:0.9267:0.0:0.0733	.	201	O14910	LIN7A_HUMAN	K	201	ENSP00000447488:E201K	ENSP00000447488:E201K	E	-	1	0	LIN7A	79729476	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.818000	0.86416	1.234000	0.43709	0.591000	0.81541	GAA		0.498	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			10	23	0	0	0	1	0	10	23				
ZNF786	136051	broad.mit.edu	37	7	148769032	148769032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:148769032G>A	ENST00000491431.1	-	4	896	c.832C>T	c.(832-834)Cga>Tga	p.R278*	ZNF786_ENST00000316286.9_Nonsense_Mutation_p.R192*|ZNF786_ENST00000451334.3_Nonsense_Mutation_p.R241*	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCTCGTGTCGGAAGCACATT	0.682																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(574-576)Cga>Tga		zinc finger protein 786							23.0	29.0	27.0					7																	148769032		2161	4254	6415	SO:0001587	stop_gained	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769032G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.832C>T	7.37:g.148769032G>A	ENSP00000417470:p.Arg278*					ZNF786_ENST00000451334.3_Nonsense_Mutation_p.R241*|ZNF786_ENST00000491431.1_Nonsense_Mutation_p.R278*	p.R192*			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	846	-	Melanoma(164;0.15)		278					A1A568|B4DMI1	Nonsense_Mutation	SNP	ENST00000491431.1	37	c.574C>T	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554960	0.65425	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	.	.	.	3.87	-0.229	0.13094	.	1.949450	0.03487	N	0.215928	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	0.243	7.4539	0.27255	0.5827:0.0:0.4173:0.0	.	.	.	.	X	192;192;278;241	.	ENSP00000313516:R192X	R	-	1	2	ZNF786	148399965	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.158000	0.10070	-0.271000	0.09272	0.561000	0.74099	CGA		0.682	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		6	42	0	0	0	1	0	6	42				
C8G	733	broad.mit.edu	37	9	139839826	139839826	+	Silent	SNP	G	G	A	rs550971839		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:139839826G>A	ENST00000224181.3	+	1	114	c.54G>A	c.(52-54)tcG>tcA	p.S18S	FBXW5_ENST00000325285.3_5'Flank|FBXW5_ENST00000483559.1_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	18					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CAGCTGGCTCGCTGGGCCAGA	0.662											OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		15172	0.001		0.0	False		,,,				2504	0.0					ENST00000224181.3																			0				NS(1)|prostate(1)|skin(1)	3						c.(52-54)tcG>tcA		complement component 8, gamma polypeptide							20.0	22.0	21.0					9																	139839826		2203	4296	6499	SO:0001819	synonymous_variant	733				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity	g.chr9:139839826G>A	X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"""Complement system"", ""Lipocalins"""	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.54G>A	9.37:g.139839826G>A			OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1651		p.S18S	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)	1	114	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	18					Q14CT8|Q14CU0|Q5SQ07	Silent	SNP	ENST00000224181.3	37	c.54G>A	CCDS7017.1																																																																																				0.662	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055178.1			6	22	0	0	0	1	0	6	22				
CCDC47	57003	broad.mit.edu	37	17	61829712	61829712	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:61829712C>G	ENST00000225726.5	-	11	1553	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	CCDC47_ENST00000403162.3_Missense_Mutation_p.D391H|RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000582252.1_Missense_Mutation_p.D391H	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	391					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TTGGCTTTATCAATAGAATAA	0.428																																						ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1171-1173)Gat>Cat		coiled-coil domain containing 47							109.0	105.0	106.0					17																	61829712		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61829712C>G	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1171G>C	17.37:g.61829712C>G	ENSP00000225726:p.Asp391His					CCDC47_ENST00000403162.3_Missense_Mutation_p.D391H|CCDC47_ENST00000582252.1_Missense_Mutation_p.D391H	p.D391H	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			11	1553	-			391					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.1171G>C	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558971	0.45590	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.80332	2.49	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.87578	0.998;0.809	T	0.83214	-0.0072	9	0.87932	D	0	-22.0794	17.7273	0.88369	0.0:1.0:0.0:0.0	.	391;391	Q96A33-2;Q96A33	.;CCD47_HUMAN	H	391	.	ENSP00000225726:D391H	D	-	1	0	CCDC47	59183444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.658000	0.90341	0.655000	0.94253	GAT		0.428	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		5	62	0	0	0	1	0	5	62				
ADCY8	114	broad.mit.edu	37	8	132002726	132002726	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:132002726C>T	ENST00000286355.5	-	2	3115	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	ADCY8_ENST00000377928.3_Silent_p.L341L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	341					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCGGTCTGACAGGTAACTGA	0.522										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1021-1023)ctG>ctA		adenylate cyclase 8 (brain)							130.0	137.0	135.0					8																	132002726		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132002726C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1023G>A	8.37:g.132002726C>T		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.L341L	p.L341L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	3115	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		341						Silent	SNP	ENST00000286355.5	37	c.1023G>A	CCDS6363.1																																																																																				0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			18	224	0	0	0	1	0	18	224				
MC4R	4160	broad.mit.edu	37	18	58039415	58039415	+	Silent	SNP	G	G	T	rs374441978		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:58039415G>T	ENST00000299766.3	-	1	586	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	56					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ACAAGCTGATGACACCCAGAG	0.473																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(166-168)gtC>gtA		melanocortin 4 receptor							93.0	88.0	90.0					18																	58039415		2203	4300	6503	SO:0001819	synonymous_variant	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039415G>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.168C>A	18.37:g.58039415G>T							p.V56V	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	586	-		Colorectal(73;0.0946)	56					B2RAC3|Q16317|Q3MIJ6	Silent	SNP	ENST00000299766.3	37	c.168C>A	CCDS11976.1																																																																																				0.473	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		12	70	1	0	4.3838e-07	1	4.62962e-07	12	70				
ABCA1	19	broad.mit.edu	37	9	107578573	107578573	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:107578573C>A	ENST00000374736.3	-	25	3983	c.3589G>T	c.(3589-3591)Gtg>Ttg	p.V1197L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1197					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ATGTCTTCCACCAGCCGGGCT	0.517																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(3589-3591)Gtg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						95.0	94.0	94.0					9																	107578573		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107578573C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3589G>T	9.37:g.107578573C>A	ENSP00000363868:p.Val1197Leu						p.V1197L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	25	3983	-			1197					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3589G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192776	0.78902	.	.	ENSG00000165029	ENST00000374736	D	0.82167	-1.58	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	N	0.17248	0.465	0.80722	D	1	B	0.24882	0.113	B	0.27715	0.082	T	0.73084	-0.4094	10	0.72032	D	0.01	.	19.5118	0.95144	0.0:1.0:0.0:0.0	.	1197	O95477	ABCA1_HUMAN	L	1197	ENSP00000363868:V1197L	ENSP00000363868:V1197L	V	-	1	0	ABCA1	106618394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.616000	0.88540	0.561000	0.74099	GTG		0.517	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	73	1	0	1.26484e-09	1	1.38765e-09	6	73				
BICC1	80114	broad.mit.edu	37	10	60546740	60546740	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:60546740G>A	ENST00000373886.3	+	5	449	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	149	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACATGTAATCGGCAAAGGTGG	0.368																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(445-447)Ggc>Agc		bicaudal C homolog 1 (Drosophila)							112.0	105.0	107.0					10																	60546740		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60546740G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.445G>A	10.37:g.60546740G>A	ENSP00000362993:p.Gly149Ser						p.G149S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			5	449	+			149			KH 1.			Missense_Mutation	SNP	ENST00000373886.3	37	c.445G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635008	0.96682	.	.	ENSG00000122870	ENST00000373886	D	0.88586	-2.4	5.79	5.79	0.91817	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97473	1.0042	10	0.72032	D	0.01	-15.04	20.0361	0.97558	0.0:0.0:1.0:0.0	.	149	Q9H694	BICC1_HUMAN	S	149	ENSP00000362993:G149S	ENSP00000362993:G149S	G	+	1	0	BICC1	60216746	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.719000	0.98760	2.740000	0.93945	0.563000	0.77884	GGC		0.368	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		7	67	0	0	0	1	0	7	67				
SBK1	388228	broad.mit.edu	37	16	28330378	28330378	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:28330378G>A	ENST00000341901.4	+	3	1078	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						CTTCCTACGGGAGGTGAGCAT	0.512																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(289-291)Gag>Aag		SH3 domain binding kinase 1							160.0	143.0	149.0					16																	28330378		2197	4300	6497	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28330378G>A		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.289G>A	16.37:g.28330378G>A	ENSP00000343248:p.Glu97Lys						p.E97K	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			3	1078	+			97			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.289G>A	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	g	34	5.380879	0.95945	.	.	ENSG00000188322	ENST00000341901	T	0.61392	0.11	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	M	0.93328	3.405	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87042	0.2141	10	0.87932	D	0	-29.2579	15.7481	0.77962	0.0:0.0:1.0:0.0	.	97	Q52WX2	SBK1_HUMAN	K	97	ENSP00000343248:E97K	ENSP00000343248:E97K	E	+	1	0	SBK1	28237879	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.804000	0.99143	2.296000	0.77279	0.651000	0.88453	GAG		0.512	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		37	145	0	0	0	1	0	37	145				
ALX1	8092	broad.mit.edu	37	12	85674213	85674213	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:85674213C>T	ENST00000316824.3	+	1	329	c.174C>T	c.(172-174)cgC>cgT	p.R58R		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	58					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCCTGCCCCGCGCCGAGCATC	0.647																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(172-174)cgC>cgT		ALX homeobox 1							35.0	37.0	36.0					12																	85674213		2203	4300	6503	SO:0001819	synonymous_variant	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85674213C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.174C>T	12.37:g.85674213C>T							p.R58R	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	1	329	+			58					Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.174C>T	CCDS9028.1																																																																																				0.647	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		4	70	0	0	0	1	0	4	70				
FEZF2	55079	broad.mit.edu	37	3	62355881	62355881	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:62355881G>A	ENST00000283268.3	-	5	1551	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	FEZF2_ENST00000486811.1_Silent_p.C419C|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.C419C|PTPRG-AS1_ENST00000490916.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	419					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.C419C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGCAAGTGGCGCACGTGAAAG	0.522																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			2	Substitution - coding silent(2)	p.C419C(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1255-1257)tgC>tgT		FEZ family zinc finger 2							256.0	233.0	240.0					3																	62355881		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62355881G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1257C>T	3.37:g.62355881G>A						FEZF2_ENST00000486811.1_Silent_p.C419C|FEZF2_ENST00000475839.1_Silent_p.C419C	p.C419C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	5	1551	-		Lung SC(41;0.0262)	419					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.1257C>T	CCDS2897.1																																																																																				0.522	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		5	146	0	0	0	1	0	5	146				
PCDHGA2	56113	broad.mit.edu	37	5	140718758	140718758	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140718758C>A	ENST00000394576.2	+	1	220	c.220C>A	c.(220-222)Ctc>Atc	p.L74I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L74F(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGTCCCAGCTCTTTGCTCT	0.592																																						ENST00000394576.2																			1	Substitution - Missense(1)	p.L74F(1)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(220-222)Ctc>Atc									64.0	68.0	67.0					5																	140718758		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140718758C>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.220C>A	5.37:g.140718758C>A	ENSP00000378077:p.Leu74Ile					PCDHGA1_ENST00000517417.1_Intron	p.L74I	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	220	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.220C>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259873	0.39995	.	.	ENSG00000081853	ENST00000394576	T	0.28454	1.61	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.418307	0.17351	U	0.177413	T	0.51329	0.1668	H	0.95328	3.655	0.21147	N	0.999771	B;B	0.31153	0.135;0.31	B;B	0.40506	0.331;0.248	T	0.58306	-0.7659	10	0.72032	D	0.01	.	7.2883	0.26352	0.0:0.7863:0.0:0.2137	.	74;74	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	I	74	ENSP00000378077:L74I	ENSP00000378077:L74I	L	+	1	0	PCDHGA2	140698942	0.003000	0.15002	1.000000	0.80357	0.317000	0.28152	0.737000	0.26144	2.525000	0.85131	0.591000	0.81541	CTC		0.592	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		15	95	1	0	3.52763e-06	1	3.65709e-06	15	95				
FRRS1L	23732	broad.mit.edu	37	9	111903627	111903627	+	Silent	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:111903627A>G	ENST00000561981.2	-	4	857	c.858T>C	c.(856-858)atT>atC	p.I286I		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	286						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											GCTTACCCTGAATGGCTGGAC	0.433																																						ENST00000374581.3																			0											c.(856-858)atT>atC		ferric-chelate reductase 1-like							116.0	105.0	108.0					9																	111903627		2203	4300	6503	SO:0001819	synonymous_variant	23732					integral to membrane		g.chr9:111903627A>G	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.858T>C	9.37:g.111903627A>G							p.I286I	NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN			4	857	-			286					Q5T4G4	Silent	SNP	ENST00000561981.2	37	c.858T>C	CCDS35098.1																																																																																				0.433	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		10	44	0	0	0	1	0	10	44				
PCDHB2	56133	broad.mit.edu	37	5	140476476	140476476	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140476476C>T	ENST00000194155.4	+	1	2250	c.2102C>T	c.(2101-2103)tCg>tTg	p.S701L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	701					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.697																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2101-2103)tCg>tTg									45.0	48.0	47.0					5																	140476476		2164	4216	6380	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476476C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2102C>T	5.37:g.140476476C>T	ENSP00000194155:p.Ser701Leu						p.S701L	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2250	+			701					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.2102C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	2.524	-0.310160	0.05458	.	.	ENSG00000112852	ENST00000194155	T	0.12984	2.63	4.12	1.84	0.25277	.	.	.	.	.	T	0.15565	0.0375	M	0.81942	2.565	0.09310	N	1	B	0.31193	0.312	B	0.24269	0.052	T	0.15292	-1.0442	9	0.31617	T	0.26	.	6.798	0.23736	0.0:0.5849:0.0:0.4151	.	701	Q9Y5E7	PCDB2_HUMAN	L	701	ENSP00000194155:S701L	ENSP00000194155:S701L	S	+	2	0	PCDHB2	140456660	0.000000	0.05858	0.998000	0.56505	0.189000	0.23516	-0.295000	0.08298	0.811000	0.34303	-0.336000	0.08194	TCG		0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		23	173	0	0	0	1	0	23	173				
PTP4A3	11156	broad.mit.edu	37	8	142432392	142432392	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:142432392C>T	ENST00000521578.1	+	2	997	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	PTP4A3_ENST00000520105.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000524028.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000329397.1_Missense_Mutation_p.R18C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	18					peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CAAACACATGCGCTTCCTCAT	0.657																																						ENST00000520105.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(52-54)Cgc>Tgc		protein tyrosine phosphatase type IVA, member 3							123.0	114.0	117.0					8																	142432392		2203	4300	6503	SO:0001583	missense	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142432392C>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.52C>T	8.37:g.142432392C>T	ENSP00000428976:p.Arg18Cys					PTP4A3_ENST00000521578.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000524028.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000329397.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R18C	p.R18C			O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		2	995	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		18					Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	c.52C>T	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045399	0.75846	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000523147;ENST00000329397;ENST00000349124;ENST00000524028	D;T;D;T	0.96073	-3.9;0.65;-3.9;0.65	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.98241	1.0488	10	0.87932	D	0	-14.7022	12.6063	0.56525	0.1665:0.8335:0.0:0.0	.	18;18	O75365-2;O75365	.;TP4A3_HUMAN	C	18	ENSP00000428976:R18C;ENSP00000428758:R18C;ENSP00000332274:R18C;ENSP00000331730:R18C	ENSP00000332274:R18C	R	+	1	0	PTP4A3	142501574	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.870000	0.39529	2.268000	0.75426	0.491000	0.48974	CGC		0.657	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		26	155	0	0	0	1	0	26	155				
ACACA	31	broad.mit.edu	37	17	35470193	35470193	+	Silent	SNP	G	G	A	rs372559158		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:35470193G>A	ENST00000394406.2	-	51	6361	c.6171C>T	c.(6169-6171)taC>taT	p.Y2057Y	ACACA_ENST00000353139.5_Silent_p.Y2094Y|ACACA_ENST00000361253.5_Silent_p.Y183Y|ACACA_ENST00000335166.5_Silent_p.Y1979Y|ACACA_ENST00000360679.3_Silent_p.Y1999Y	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2057	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCACTTGGTCGTACATATCTA	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6280-6282)taC>taT		acetyl-CoA carboxylase alpha	Biotin(DB00121)	G	,,,,	0,4406		0,0,2203	50.0	44.0	46.0		6282,6171,5997,5937,6171	-9.9	1.0	17		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACACA	NM_198834.1,NM_198836.1,NM_198837.1,NM_198838.1,NM_198839.1	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	2094/2384,2057/2347,1999/2289,1979/2269,2057/2347	35470193	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35470193G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6171C>T	17.37:g.35470193G>A						ACACA_ENST00000361253.5_Silent_p.Y183Y|ACACA_ENST00000360679.3_Silent_p.Y1999Y|ACACA_ENST00000335166.5_Silent_p.Y1979Y|ACACA_ENST00000394406.2_Silent_p.Y2057Y	p.Y2094Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			51	6763	-		Breast(25;0.00157)|Ovarian(249;0.15)	2057			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.6282C>T	CCDS11317.1																																																																																				0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		4	36	0	0	0	1	0	4	36				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	32	0	0	0	1	0	5	32				
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													N|||	6	0.00119808	0.0	0.0	5008	,	,		22333	0.0		0.006	False		,,,				2504	0.0					ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(457-459)aCg>aTg		olfactory receptor, family 5, subfamily L, member 1							217.0	181.0	193.0					11																	55579400		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579400C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.458C>T	11.37:g.55579400C>T	ENSP00000335529:p.Thr153Met						p.T153M	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	547	+		all_epithelial(135;0.208)	153					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.458C>T	CCDS31509.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	c	9.351	1.065546	0.20067	.	.	ENSG00000186117	ENST00000333973	T	0.00091	8.74	3.98	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.729368	0.12300	N	0.481164	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.25105	0.118	B	0.28991	0.097	T	0.09292	-1.0681	10	0.44086	T	0.13	-0.6723	10.911	0.47108	0.0:0.2882:0.0:0.7118	.	153	Q8NGL2	OR5L1_HUMAN	M	153	ENSP00000335529:T153M	ENSP00000335529:T153M	T	+	2	0	OR5L1	55335976	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.308000	0.08156	-0.861000	0.04094	-0.516000	0.04426	ACG		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		15	122	0	0	0	1	0	15	122				
DUOX2	50506	broad.mit.edu	37	15	45387290	45387290	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr15:45387290C>A	ENST00000603300.1	-	32	4442		c.e32-1		DUOX2_ENST00000389039.6_Splice_Site	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2						adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGAAGTAGATCTGGGGACACA	0.597																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.e32-1		dual oxidase 2							62.0	54.0	57.0					15																	45387290		2198	4298	6496	SO:0001630	splice_region_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45387290C>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4240-1G>T	15.37:g.45387290C>A						DUOX2_ENST00000603300.1_Splice_Site				Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	32	4625	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)						A8MQ13|D2XI64|Q9NR02|Q9UHF9	Splice_Site	SNP	ENST00000603300.1	37		CCDS10117.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.563851	0.86335	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6269	0.91344	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DUOX2	43174582	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.005000	0.70716	2.722000	0.93159	0.491000	0.48974	.		0.597	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	Intron	4	32	1	0	0.014758	1	0.0148898	4	32				
VCAN	1462	broad.mit.edu	37	5	82815253	82815253	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:82815253T>G	ENST00000265077.3	+	7	1693	c.1128T>G	c.(1126-1128)gaT>gaG	p.D376E	VCAN_ENST00000342785.4_Missense_Mutation_p.D376E|VCAN_ENST00000512590.2_Missense_Mutation_p.D328E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	376	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGTTTCTGATAGAACTACAC	0.398																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1126-1128)gaT>gaG		versican							137.0	139.0	138.0					5																	82815253		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815253T>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1128T>G	5.37:g.82815253T>G	ENSP00000265077:p.Asp376Glu					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D376E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D328E	p.D376E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1693	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	376			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.1128T>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	0.484	-0.878638	0.02550	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.84873	-1.8;-1.88;-1.91	6.02	0.655	0.17839	.	0.916921	0.09333	N	0.816566	T	0.77103	0.4081	L	0.48362	1.52	0.09310	N	1	B;B	0.14805	0.005;0.011	B;B	0.18263	0.021;0.005	T	0.56372	-0.7990	10	0.12766	T	0.61	.	6.8877	0.24212	0.0:0.3852:0.4399:0.175	.	376;376	P13611-3;P13611	.;CSPG2_HUMAN	E	376;376;328	ENSP00000265077:D376E;ENSP00000342768:D376E;ENSP00000425959:D328E	ENSP00000265077:D376E	D	+	3	2	VCAN	82851009	0.001000	0.12720	0.085000	0.20634	0.019000	0.09904	-0.635000	0.05471	-0.178000	0.10672	0.533000	0.62120	GAT		0.398	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	109	0	0	0	1	0	4	109				
CHD6	84181	broad.mit.edu	37	20	40041963	40041963	+	Splice_Site	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:40041963C>G	ENST00000373233.3	-	35	7309		c.e35+1		CHD6_ENST00000480022.1_Splice_Site	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAACACTTACTGCCCCAAAG	0.502																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.e35+1		chromodomain helicase DNA binding protein 6							83.0	77.0	79.0					20																	40041963		2203	4300	6503	SO:0001630	splice_region_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40041963C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7131+1G>C	20.37:g.40041963C>G						CHD6_ENST00000480022.1_Splice_Site		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			35	7309	-		Myeloproliferative disorder(115;0.00425)						Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Splice_Site	SNP	ENST00000373233.3	37		CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829546	0.71258	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1741	0.93597	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD6	39475377	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	6.690000	0.74567	2.759000	0.94783	0.563000	0.77884	.		0.502	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		Intron	10	95	0	0	0	1	0	10	95				
POTEE	445582	broad.mit.edu	37	2	131976330	131976330	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:131976330G>A	ENST00000356920.5	+	1	449	c.355G>A	c.(355-357)Gct>Act	p.A119T	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.A119T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	119					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CAAGGTGGGCGCTTGGGGAGA	0.597																																						ENST00000356920.5																			0											c.(355-357)Gct>Act		POTE ankyrin domain family, member E							121.0	119.0	120.0					2																	131976330		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976330G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.355G>A	2.37:g.131976330G>A	ENSP00000439189:p.Ala119Thr					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.A119T	p.A119T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	449	+			119					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.355G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.510	1.105419	0.20632	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.76839	-1.05;1.61	0.399	0.399	0.16325	.	.	.	.	.	T	0.49983	0.1589	N	0.12746	0.255	0.09310	N	1	P	0.52463	0.953	B	0.32149	0.141	T	0.44236	-0.9341	8	0.36615	T	0.2	.	.	.	.	.	119	Q6S8J3	POTEE_HUMAN	T	119	ENSP00000439189:A119T;ENSP00000443049:A119T	ENSP00000439189:A119T	A	+	1	0	AC131180.1	131692800	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.980000	0.03770	0.440000	0.26502	0.162000	0.16502	GCT		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		15	144	0	0	0	1	0	15	144				
SIPA1L1	26037	broad.mit.edu	37	14	72176267	72176267	+	Missense_Mutation	SNP	G	G	A	rs575226257		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr14:72176267G>A	ENST00000555818.1	+	15	4505	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R840Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1365Q|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1365Q	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1386	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGCCTGGACCGGAAAACAGAG	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4156-4158)cGg>cAg		signal-induced proliferation-associated 1 like 1							64.0	56.0	59.0					14																	72176267		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72176267G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4157G>A	14.37:g.72176267G>A	ENSP00000450832:p.Arg1386Gln					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1365Q|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R840Q|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1365Q	p.R1386Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	15	4505	+			1386			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.4157G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101947	0.37048	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.79	5.79	0.91817	.	0.376195	0.28595	N	0.014787	T	0.60405	0.2266	N	0.25890	0.77	0.37499	D	0.916678	B;D;B;P;D	0.64830	0.072;0.994;0.066;0.905;0.994	B;P;B;B;P	0.61201	0.009;0.885;0.008;0.196;0.536	T	0.61816	-0.6985	10	0.41790	T	0.15	-19.1267	20.04	0.97581	0.0:0.0:1.0:0.0	.	840;1386;840;1365;1386	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Q	1365;1386;1365;840	ENSP00000370630:R1365Q;ENSP00000450832:R1386Q;ENSP00000351352:R1365Q;ENSP00000440682:R840Q	ENSP00000351352:R1386Q	R	+	2	0	SIPA1L1	71246020	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	5.792000	0.69052	2.733000	0.93635	0.655000	0.94253	CGG		0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		10	39	0	0	0	1	0	10	39				
FMN2	56776	broad.mit.edu	37	1	240256708	240256708	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:240256708G>A	ENST00000319653.9	+	1	1529	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	433					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATCACTCCCCGTCTCAGTCCC	0.672																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1297-1299)ccG>ccA		formin 2							51.0	59.0	56.0					1																	240256708		2201	4298	6499	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256708G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1299G>A	1.37:g.240256708G>A							p.P433P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1529	+	Ovarian(103;0.127)	all_cancers(173;0.013)	433					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.1299G>A	CCDS31069.2																																																																																				0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		14	86	0	0	0	1	0	14	86				
CHRD	8646	broad.mit.edu	37	3	184106781	184106781	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:184106781G>A	ENST00000204604.1	+	22	3056	c.2810G>A	c.(2809-2811)cGg>cAg	p.R937Q	CHRD_ENST00000545352.1_Missense_Mutation_p.R479Q|CHRD_ENST00000450923.1_Missense_Mutation_p.R937Q|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R897Q	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	937					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCACCGGCGGCGTAAGTGA	0.637																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2809-2811)cGg>cAg		chordin							51.0	45.0	47.0					3																	184106781		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184106781G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2810G>A	3.37:g.184106781G>A	ENSP00000204604:p.Arg937Gln					CHRD_ENST00000450923.1_Missense_Mutation_p.R937Q|CHRD_ENST00000348986.3_Missense_Mutation_p.R897Q|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.R479Q	p.R937Q	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		22	3056	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		937					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2810G>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024635	0.19433	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.49139	2.64;2.42;2.42;0.79	4.93	2.18	0.27775	.	1.646200	0.03715	N	0.250912	T	0.28267	0.0698	N	0.12746	0.255	0.09310	N	1	B;B;B;B	0.10296	0.0;0.0;0.001;0.003	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.18555	-1.0333	10	0.09590	T	0.72	.	6.4288	0.21784	0.3008:0.0:0.6992:0.0	.	479;897;937;937	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	Q	937;937;897;479	ENSP00000204604:R937Q;ENSP00000408972:R937Q;ENSP00000334036:R897Q;ENSP00000442948:R479Q	ENSP00000204604:R937Q	R	+	2	0	CHRD	185589475	0.000000	0.05858	0.005000	0.12908	0.027000	0.11550	0.600000	0.24104	0.501000	0.28013	-0.137000	0.14449	CGG		0.637	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		5	27	0	0	0	1	0	5	27				
CLEC4M	10332	broad.mit.edu	37	19	7831670	7831670	+	Missense_Mutation	SNP	G	G	A	rs150860249		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:7831670G>A	ENST00000327325.5	+	5	1031	c.913G>A	c.(913-915)Gta>Ata	p.V305I	CLEC4M_ENST00000597522.1_Missense_Mutation_p.V213I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.V283I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.V277I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.V254I|CLEC4M_ENST00000394122.2_Missense_Mutation_p.V293I|CLEC4M_ENST00000357361.2_Missense_Mutation_p.V305I|CLEC4M_ENST00000359059.5_Missense_Mutation_p.V238I|CLEC4M_ENST00000596707.1_Missense_Mutation_p.V238I|CLEC4M_ENST00000595496.1_Missense_Mutation_p.V169I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	305	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CCAGCTCGTCGTAATCAAAAC	0.587																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(913-915)Gta>Ata		C-type lectin domain family 4, member M		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	78.0	72.0	74.0		760,841,505,712,637,775,844,829,913	-5.1	0.0	19	dbSNP_134	74	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	CLEC4M	NM_001144904.1,NM_001144905.1,NM_001144906.1,NM_001144907.1,NM_001144908.1,NM_001144909.1,NM_001144910.1,NM_001144911.1,NM_014257.4	29,29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign	254/349,281/376,169/264,238/333,213/233,259/354,282/377,277/297,305/400	7831670	1,13005	2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831670G>A	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.913G>A	19.37:g.7831670G>A	ENSP00000316228:p.Val305Ile					CLEC4M_ENST00000357361.2_Missense_Mutation_p.V305I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.V283I|CLEC4M_ENST00000597522.1_Missense_Mutation_p.V213I|CLEC4M_ENST00000394122.2_Missense_Mutation_p.V293I|CLEC4M_ENST00000595496.1_Missense_Mutation_p.V169I|CLEC4M_ENST00000596707.1_Missense_Mutation_p.V238I|CLEC4M_ENST00000359059.5_Missense_Mutation_p.V238I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.V277I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.V254I	p.V305I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			5	1031	+			305			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.913G>A	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	G	0.815	-0.750809	0.03041	2.27E-4	0.0	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	2.57	-5.14	0.02875	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.33673	0.0871	N	0.11698	0.16	0.09310	N	1	B;B;B;B;B;B;B;B	0.20780	0.002;0.003;0.005;0.007;0.048;0.006;0.003;0.018	B;B;B;B;B;B;B;B	0.20767	0.01;0.008;0.025;0.031;0.02;0.008;0.015;0.022	T	0.40478	-0.9561	9	0.02654	T	1	.	10.1188	0.42607	0.7995:0.0:0.2005:0.0	.	254;238;305;293;282;277;169;213	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	I	305;293;283;254;238;305;249	ENSP00000316228:V305I;ENSP00000377680:V293I;ENSP00000248228:V283I;ENSP00000335228:V254I;ENSP00000351954:V238I;ENSP00000349924:V305I	ENSP00000248228:V283I	V	+	1	0	CLEC4M	7737670	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.152000	0.01288	-1.380000	0.02115	-1.017000	0.02453	GTA		0.587	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		4	87	0	0	0	1	0	4	87				
SORL1	6653	broad.mit.edu	37	11	121414336	121414336	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:121414336G>A	ENST00000260197.7	+	13	1894	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	589					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTCCTCACAGAACCTGGGGA	0.502																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(1765-1767)Gaa>Aaa		sortilin-related receptor, L(DLR class) A repeats containing							178.0	161.0	166.0					11																	121414336		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121414336G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1765G>A	11.37:g.121414336G>A	ENSP00000260197:p.Glu589Lys					SORL1_ENST00000532451.1_3'UTR	p.E589K	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	13	1894	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	589					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.1765G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572859	0.96553	.	.	ENSG00000137642	ENST00000260197	T	0.28895	1.59	5.8	5.8	0.92144	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.90977	3.165	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.73616	-0.3926	10	0.87932	D	0	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	589	Q92673	SORL_HUMAN	K	589	ENSP00000260197:E589K	ENSP00000260197:E589K	E	+	1	0	SORL1	120919546	1.000000	0.71417	0.663000	0.29738	0.876000	0.50452	9.567000	0.98161	2.735000	0.93741	0.655000	0.94253	GAA		0.502	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		14	146	0	0	0	1	0	14	146				
RBL2	5934	broad.mit.edu	37	16	53496504	53496504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:53496504C>G	ENST00000262133.6	+	11	1634	c.1497C>G	c.(1495-1497)taC>taG	p.Y499*	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Nonsense_Mutation_p.Y283*	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	499	Domain A.|Pocket; binds E1A.				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						AGATGCTTTACTATAAAGTAT	0.333																																						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.(1495-1497)taC>taG		retinoblastoma-like 2 (p130)							64.0	69.0	67.0					16																	53496504		2198	4299	6497	SO:0001587	stop_gained	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.chr16:53496504C>G	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.1497C>G	16.37:g.53496504C>G	ENSP00000262133:p.Tyr499*					RBL2_ENST00000544545.1_Nonsense_Mutation_p.Y283*|RBL2_ENST00000379935.4_3'UTR	p.Y499*	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			11	1634	+			499			Domain A.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Nonsense_Mutation	SNP	ENST00000262133.6	37	c.1497C>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	38	6.751318	0.97813	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	.	.	.	5.8	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.657	10.3213	0.43767	0.0:0.7957:0.0:0.2043	.	.	.	.	X	499;425;209;283	.	ENSP00000262133:Y499X	Y	+	3	2	RBL2	52054005	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.014000	0.40951	1.470000	0.48102	-0.143000	0.13931	TAC		0.333	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		14	35	0	0	0	1	0	14	35				
ZBTB14	7541	broad.mit.edu	37	18	5291825	5291825	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:5291825G>A	ENST00000357006.4	-	4	720	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R128C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	128					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										GACACATCACGCTTCTGAGAA	0.413																																						ENST00000357006.4																			0											c.(382-384)Cgt>Tgt		zinc finger and BTB domain containing 14							136.0	135.0	135.0					18																	5291825		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291825G>A	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.382C>T	18.37:g.5291825G>A	ENSP00000349503:p.Arg128Cys					ZBTB14_ENST00000400143.3_Missense_Mutation_p.R128C	p.R128C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	720	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.382C>T	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566839	0.86439	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.66995	-0.24;-0.24	6.07	6.07	0.98685	BTB/POZ-like (1);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71097	-0.4691	10	0.33940	T	0.23	-14.4339	20.6439	0.99570	0.0:0.0:1.0:0.0	.	128	O43829	ZF161_HUMAN	C	128	ENSP00000349503:R128C;ENSP00000383009:R128C	ENSP00000349503:R128C	R	-	1	0	ZFP161	5281825	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.799000	0.85936	2.884000	0.98904	0.655000	0.94253	CGT		0.413	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		4	85	0	0	0	1	0	4	85				
COPA	1314	broad.mit.edu	37	1	160275290	160275290	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:160275290C>T	ENST00000241704.7	-	17	1829	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T	COPA_ENST00000368069.3_Missense_Mutation_p.A543T	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	534					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATCCCAGGCCCCACTCTTG	0.438																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1600-1602)Gcc>Acc		coatomer protein complex, subunit alpha							123.0	119.0	120.0					1																	160275290		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160275290C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1600G>A	1.37:g.160275290C>T	ENSP00000241704:p.Ala534Thr					COPA_ENST00000368069.3_Missense_Mutation_p.A543T	p.A534T	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	1829	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		534					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1600G>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798829	0.90538	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62105	2.31;0.05	5.64	5.64	0.86602	Coatomer, WD associated region (1);	0.098172	0.64402	D	0.000001	T	0.61073	0.2318	L	0.56124	1.755	0.80722	D	1	P;P	0.44195	0.828;0.673	P;B	0.50934	0.654;0.377	T	0.58875	-0.7559	10	0.42905	T	0.14	-17.2301	16.5532	0.84477	0.0:1.0:0.0:0.0	.	534;543	P53621;P53621-2	COPA_HUMAN;.	T	543;534	ENSP00000357048:A543T;ENSP00000241704:A534T	ENSP00000241704:A534T	A	-	1	0	COPA	158541914	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.231000	0.78106	2.937000	0.99478	0.650000	0.86243	GCC		0.438	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		12	78	0	0	0	1	0	12	78				
CREBBP	1387	broad.mit.edu	37	16	3789597	3789597	+	Missense_Mutation	SNP	C	C	A	rs200616542		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:3789597C>A	ENST00000262367.5	-	25	5071	c.4262G>T	c.(4261-4263)tGc>tTc	p.C1421F	CREBBP_ENST00000382070.3_Missense_Mutation_p.C1383F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1421	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C1421Y(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGAGGGGGGCAATCAGAGCC	0.502			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Missense(1)	p.C1421Y(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4261-4263)tGc>tTc		CREB binding protein							75.0	70.0	71.0					16																	3789597		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3789597C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4262G>T	16.37:g.3789597C>A	ENSP00000262367:p.Cys1421Phe					CREBBP_ENST00000382070.3_Missense_Mutation_p.C1383F	p.C1421F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	5071	-		Ovarian(90;0.0266)	1421			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4262G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	19.94	3.920342	0.73098	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93133	-3.17;-3.17	5.36	5.36	0.76844	.	0.128977	0.56097	D	0.000038	D	0.97813	0.9282	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98507	1.0617	10	0.72032	D	0.01	-14.7453	19.4402	0.94817	0.0:1.0:0.0:0.0	.	1451;1421	Q4LE28;Q92793	.;CBP_HUMAN	F	1421;1451;1383;10	ENSP00000262367:C1421F;ENSP00000371502:C1383F	ENSP00000262367:C1421F	C	-	2	0	CREBBP	3729598	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.713000	0.84693	2.665000	0.90641	0.561000	0.74099	TGC		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		11	44	1	0	1.61879e-10	1	1.79337e-10	11	44				
SSTR3	6753	broad.mit.edu	37	22	37603255	37603255	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr22:37603255G>A	ENST00000328544.3	-	2	1121	c.588C>T	c.(586-588)ccC>ccT	p.P196P	SSTR3_ENST00000402501.1_Silent_p.P196P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	196					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CCGCCGGCTCGGGCCACTGCA	0.692																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(586-588)ccC>ccT		somatostatin receptor 3							9.0	11.0	11.0					22																	37603255		2056	4065	6121	SO:0001819	synonymous_variant	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603255G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.588C>T	22.37:g.37603255G>A						SSTR3_ENST00000402501.1_Silent_p.P196P	p.P196P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1121	-			196					A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.588C>T	CCDS13944.1																																																																																				0.692	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			4	11	0	0	0	1	0	4	11				
PDHA2	5161	broad.mit.edu	37	4	96762259	96762259	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:96762259G>A	ENST00000295266.4	+	1	1021	c.958G>A	c.(958-960)Gat>Aat	p.D320N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	320					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AATTCTCCAAGATAGAATGGT	0.418																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(958-960)Gat>Aat		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						77.0	77.0	77.0					4																	96762259		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762259G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.958G>A	4.37:g.96762259G>A	ENSP00000295266:p.Asp320Asn						p.D320N	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	1021	+		Hepatocellular(203;0.114)	320					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.958G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102693	0.20632	.	.	ENSG00000163114	ENST00000295266	D	0.97161	-4.27	4.91	3.18	0.36537	Dehydrogenase, E1 component (1);	0.155857	0.56097	D	0.000038	D	0.91379	0.7280	N	0.11756	0.17	0.54753	D	0.999983	B	0.20671	0.047	B	0.23419	0.046	D	0.85948	0.1462	10	0.36615	T	0.2	-23.3849	9.4318	0.38615	0.1749:0.0:0.8251:0.0	.	320	P29803	ODPAT_HUMAN	N	320	ENSP00000295266:D320N	ENSP00000295266:D320N	D	+	1	0	PDHA2	96981282	1.000000	0.71417	0.018000	0.16275	0.306000	0.27790	4.922000	0.63404	0.785000	0.33685	0.467000	0.42956	GAT		0.418	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			7	70	0	0	0	1	0	7	70				
LTA4H	4048	broad.mit.edu	37	12	96409361	96409361	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:96409361C>T	ENST00000228740.2	-	11	1200	c.1059G>A	c.(1057-1059)tcG>tcA	p.S353S	LTA4H_ENST00000548375.1_5'Flank|LTA4H_ENST00000413268.2_Splice_Site_p.S329S|LTA4H_ENST00000552789.1_Splice_Site_p.S329S	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	353					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	ACTCCTTTACCGAATTCTGTA	0.378											OREG0022040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.e11+1		leukotriene A4 hydrolase							115.0	113.0	114.0					12																	96409361		2203	4300	6503	SO:0001630	splice_region_variant	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96409361C>T	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1059+1G>A	12.37:g.96409361C>T			OREG0022040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1320	LTA4H_ENST00000413268.2_Splice_Site_p.S329_splice|LTA4H_ENST00000552789.1_Splice_Site_p.S329_splice	p.S353_splice	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			11	1200	-			353					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Splice_Site	SNP	ENST00000228740.2	37	c.1059_splice	CCDS9059.1																																																																																				0.378	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895	Silent	7	87	0	0	0	1	0	7	87				
TMPRSS11E	28983	broad.mit.edu	37	4	69327597	69327597	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:69327597G>A	ENST00000305363.4	+	2	134	c.70G>A	c.(70-72)Gtc>Atc	p.V24I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	24					cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TATCGGCCTCGTCATCTTCAT	0.423																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(70-72)Gtc>Atc		transmembrane protease, serine 11E							395.0	386.0	389.0					4																	69327597		2203	4296	6499	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69327597G>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.70G>A	4.37:g.69327597G>A	ENSP00000307519:p.Val24Ile						p.V24I	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			2	134	+			24					A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.70G>A	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.765264	0.00651	.	.	ENSG00000087128	ENST00000305363	D	0.87571	-2.27	6.03	2.28	0.28536	.	0.140730	0.32081	N	0.006615	T	0.48960	0.1529	N	0.00155	-1.965	0.23401	N	0.997754	B	0.02656	0.0	B	0.01281	0.0	T	0.57100	-0.7869	10	0.02654	T	1	.	4.6828	0.12743	0.6673:0.162:0.1708:0.0	.	24	Q9UL52	TM11E_HUMAN	I	24	ENSP00000307519:V24I	ENSP00000307519:V24I	V	+	1	0	TMPRSS11E	69010192	0.996000	0.38824	0.684000	0.30055	0.074000	0.17049	1.902000	0.39848	0.165000	0.19558	-0.484000	0.04775	GTC		0.423	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		6	277	0	0	0	1	0	6	277				
SLC17A1	6568	broad.mit.edu	37	6	25813193	25813193	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr6:25813193T>C	ENST00000244527.4	-	8	878	c.763A>G	c.(763-765)Atc>Gtc	p.I255V	SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000476801.1_Missense_Mutation_p.I255V|SLC17A1_ENST00000427328.1_Intron	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	255					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						ATAGCCTTGATAGGCAGAGAT	0.388																																						ENST00000244527.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(763-765)Atc>Gtc		solute carrier family 17 (organic anion transporter), member 1							93.0	94.0	94.0					6																	25813193		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25813193T>C		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.763A>G	6.37:g.25813193T>C	ENSP00000244527:p.Ile255Val					SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000476801.1_Missense_Mutation_p.I255V|SLC17A1_ENST00000427328.1_Intron	p.I255V	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN			8	878	-			255					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.763A>G	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642571	0.47153	.	.	ENSG00000124568	ENST00000244527;ENST00000476801	T;T	0.59083	0.29;0.29	3.67	2.48	0.30137	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.294616	0.24350	N	0.039289	T	0.41026	0.1141	M	0.69358	2.11	0.80722	D	1	P	0.39737	0.685	B	0.42625	0.393	T	0.41215	-0.9521	10	0.56958	D	0.05	.	6.3884	0.21574	0.2177:0.0:0.0:0.7822	.	255	Q14916	NPT1_HUMAN	V	255	ENSP00000244527:I255V;ENSP00000420614:I255V	ENSP00000244527:I255V	I	-	1	0	SLC17A1	25921172	0.667000	0.27484	0.950000	0.38849	0.816000	0.46133	0.865000	0.27940	0.753000	0.32945	0.533000	0.62120	ATC		0.388	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			5	77	0	0	0	1	0	5	77				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	41	0	0	0	1	0	5	41				
DDX11	1663	broad.mit.edu	37	12	31244771	31244771	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:31244771C>T	ENST00000407793.2	+	10	1459	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	DDX11_ENST00000350437.4_Missense_Mutation_p.T403M|DDX11_ENST00000545668.1_Missense_Mutation_p.T403M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.T403M|DDX11_ENST00000228264.6_Missense_Mutation_p.T377M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	403	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GACACCATCACGGGCATGCAC	0.667										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(1207-1209)aCg>aTg		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							53.0	54.0	53.0					12																	31244771		2203	4297	6500	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31244771C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1208C>T	12.37:g.31244771C>T	ENSP00000384703:p.Thr403Met	Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Missense_Mutation_p.T403M|DDX11_ENST00000542838.1_Missense_Mutation_p.T403M|DDX11_ENST00000350437.4_Missense_Mutation_p.T403M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.T377M	p.T403M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			10	1459	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		403			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.1208C>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741115	0.69304	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	2.75	2.75	0.32379	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.242652	0.42964	D	0.000630	T	0.57242	0.2040	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.959;0.978;0.993;0.966;0.978	T	0.58358	-0.7650	10	0.46703	T	0.11	.	11.2944	0.49269	0.0:1.0:0.0:0.0	.	128;377;403;403;403	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	M	403;403;128;377;403;403	ENSP00000443426:T403M;ENSP00000384703:T403M;ENSP00000228264:T377M;ENSP00000440402:T403M;ENSP00000309965:T403M	ENSP00000228264:T377M	T	+	2	0	DDX11	31136038	1.000000	0.71417	0.801000	0.32222	0.907000	0.53573	5.166000	0.64965	1.535000	0.49220	0.505000	0.49811	ACG		0.667	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		11	102	0	0	0	1	0	11	102				
BMX	660	broad.mit.edu	37	X	15568081	15568081	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:15568081G>A	ENST00000357607.2	+	18	2102	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S	BMX_ENST00000342014.6_Silent_p.S638S|BMX_ENST00000348343.6_Silent_p.S638S			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	638	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACCTGGCATCGGACACCATCT	0.577																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1912-1914)tcG>tcA		BMX non-receptor tyrosine kinase							156.0	132.0	140.0					X																	15568081		2203	4300	6503	SO:0001819	synonymous_variant	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15568081G>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1914G>A	X.37:g.15568081G>A						BMX_ENST00000348343.6_Silent_p.S638S|BMX_ENST00000342014.6_Silent_p.S638S	p.S638S			P51813	BMX_HUMAN			18	2102	+	Hepatocellular(33;0.183)		638			Protein kinase.		A6NIH9|O60564|Q12871	Silent	SNP	ENST00000357607.2	37	c.1914G>A	CCDS14168.1																																																																																				0.577	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		19	104	0	0	0	1	0	19	104				
KRT83	3889	broad.mit.edu	37	12	52710659	52710659	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:52710659G>T	ENST00000293670.3	-	5	961	c.899C>A	c.(898-900)tCc>tAc	p.S300Y		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	300	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGATACCAGGACTCGGCCTC	0.562																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(898-900)tCc>tAc		keratin 83							124.0	106.0	112.0					12																	52710659		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710659G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.899C>A	12.37:g.52710659G>T	ENSP00000293670:p.Ser300Tyr						p.S300Y	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	961	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		300			Coil 2.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.899C>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528631	0.64860	.	.	ENSG00000170523	ENST00000293670	T	0.78246	-1.16	3.81	2.89	0.33648	Filament (1);	0.376195	0.19317	U	0.117249	D	0.86264	0.5891	M	0.83692	2.655	0.34430	D	0.698396	P	0.48764	0.915	P	0.58780	0.845	D	0.90787	0.4683	10	0.87932	D	0	.	13.2461	0.60024	0.0:0.1613:0.8387:0.0	.	300	P78385	KRT83_HUMAN	Y	300	ENSP00000293670:S300Y	ENSP00000293670:S300Y	S	-	2	0	KRT83	50996926	0.998000	0.40836	1.000000	0.80357	0.885000	0.51271	1.722000	0.38042	0.700000	0.31782	0.561000	0.74099	TCC		0.562	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		5	107	1	0	0.0293803	1	0.0293803	5	107				
PCGF1	84759	broad.mit.edu	37	2	74733307	74733307	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:74733307C>T	ENST00000233630.6	-	4	1336		c.e4+1		PCGF1_ENST00000480844.2_Splice_Site|LBX2_ENST00000460508.3_5'Flank|LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000550249.1_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						CAAGGACATACCTTCCCCAGT	0.527																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.e4+1		polycomb group ring finger 1							97.0	106.0	103.0					2																	74733307		2203	4300	6503	SO:0001630	splice_region_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74733307C>T	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.424+1G>A	2.37:g.74733307C>T						PCGF1_ENST00000480844.2_Splice_Site		NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN			4	1336	-								Q7Z506	Splice_Site	SNP	ENST00000233630.6	37		CCDS1946.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331900	0.81801	.	.	ENSG00000115289	ENST00000233630	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4893	0.67639	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCGF1	74586815	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.626000	0.74253	2.572000	0.86782	0.655000	0.94253	.		0.527	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	Intron	49	146	0	0	0	1	0	49	146				
ZNF648	127665	broad.mit.edu	37	1	182025763	182025763	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:182025763C>T	ENST00000339948.3	-	2	1590	c.1383G>A	c.(1381-1383)tcG>tcA	p.S461S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S461S(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCACGAGGCGCGAGGGCTGCG	0.667																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			1	Substitution - coding silent(1)	p.S461S(1)	large_intestine(1)	breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1381-1383)tcG>tcA		zinc finger protein 648							35.0	32.0	33.0					1																	182025763		2200	4299	6499	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182025763C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1383G>A	1.37:g.182025763C>T							p.S461S	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	1590	-			461					B2RP16	Silent	SNP	ENST00000339948.3	37	c.1383G>A	CCDS30952.1																																																																																				0.667	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	15	0	0	0	1	0	3	15				
DDC	1644	broad.mit.edu	37	7	50611652	50611652	+	Silent	SNP	G	G	A	rs369201549		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:50611652G>A	ENST00000444124.2	-	2	332	c.132C>T	c.(130-132)gcC>gcT	p.A44A	AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Silent_p.A44A|DDC_ENST00000431062.1_Silent_p.A44A|DDC_ENST00000357936.5_Silent_p.A44A|DDC_ENST00000426377.1_Silent_p.A44A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	44					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GAGGGGCAGCGGCAGGGATCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20642	0.0		0.0	False		,,,				2504	0.001					ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(130-132)gcC>gcT		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	G	,,,,,,	2,4404	4.2+/-10.8	0,2,2201	165.0	146.0	153.0		132,132,132,132,132,132,132	0.0	0.0	7		153	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DDC	NM_000790.3,NM_001082971.1,NM_001242886.1,NM_001242887.1,NM_001242888.1,NM_001242889.1,NM_001242890.1	,,,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,,,	44/481,44/481,44/443,44/433,44/403,44/388,44/339	50611652	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611652G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.132C>T	7.37:g.50611652G>A						DDC_ENST00000357936.5_Silent_p.A44A|DDC_ENST00000380984.4_Silent_p.A44A|DDC_ENST00000431062.1_Silent_p.A44A|DDC_ENST00000426377.1_Silent_p.A44A	p.A44A	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			2	332	-	Glioma(55;0.08)|all_neural(89;0.245)		44					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.132C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	0.636	-0.815292	0.02776	4.54E-4	0.0	ENSG00000132437	ENST00000430300	.	.	.	5.92	0.0403	0.14208	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30208	-0.9986	4	.	.	.	-11.3785	11.0523	0.47898	0.5046:0.0:0.4954:0.0	.	.	.	.	L	10	.	.	P	-	2	0	DDC	50579146	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.074000	0.11450	-0.275000	0.09219	-0.794000	0.03295	CCG		0.557	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			7	217	0	0	0	1	0	7	217				
CTIF	9811	broad.mit.edu	37	18	46197071	46197071	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:46197071G>A	ENST00000256413.3	+	6	758	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	MIR4743_ENST00000584576.1_RNA|RP11-426J5.2_ENST00000589818.1_RNA|CTIF_ENST00000382998.4_Missense_Mutation_p.G155S	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	155	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.G155R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGATGGGGATGGCATCAACCT	0.577																																						ENST00000256413.3																			1	Substitution - Missense(1)	p.G155R(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(463-465)Ggc>Agc		CBP80/20-dependent translation initiation factor							213.0	165.0	181.0					18																	46197071		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46197071G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.463G>A	18.37:g.46197071G>A	ENSP00000256413:p.Gly155Ser					CTIF_ENST00000382998.4_Missense_Mutation_p.G155S	p.G155S	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			6	758	+			155			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.463G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240911	0.39598	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.46063	0.88;0.88	5.11	4.19	0.49359	.	0.355965	0.27035	N	0.021255	T	0.29817	0.0745	N	0.21448	0.665	0.44508	D	0.997455	B;B	0.17038	0.02;0.012	B;B	0.16289	0.015;0.007	T	0.07290	-1.0780	10	0.56958	D	0.05	-14.7168	11.6303	0.51171	0.0939:0.0:0.9061:0.0	.	155;155	O43310-2;O43310	.;CTIF_HUMAN	S	155;155;107	ENSP00000256413:G155S;ENSP00000372459:G155S	ENSP00000256413:G155S	G	+	1	0	CTIF	44451069	1.000000	0.71417	0.983000	0.44433	0.950000	0.60333	2.489000	0.45285	1.068000	0.40764	-0.378000	0.06908	GGC		0.577	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		9	80	0	0	0	1	0	9	80				
HTR1A	3350	broad.mit.edu	37	5	63257049	63257049	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:63257049G>A	ENST00000323865.3	-	1	731	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	166					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGATAGAGATGAGGAAGCCAA	0.607																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(496-498)ctC>ctT		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						87.0	103.0	97.0					5																	63257049		2203	4299	6502	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257049G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.498C>T	5.37:g.63257049G>A						RP11-158J3.2_ENST00000502882.1_RNA	p.L166L	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	731	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	166					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.498C>T	CCDS34168.1																																																																																				0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		11	141	0	0	0	1	0	11	141				
SBK1	388228	broad.mit.edu	37	16	28328881	28328881	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:28328881C>T	ENST00000341901.4	+	2	958	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	57	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						CGAACTAGTCCGGGAGCTGGG	0.627											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(169-171)Cgg>Tgg		SH3 domain binding kinase 1							73.0	64.0	67.0					16																	28328881		2197	4300	6497	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28328881C>T		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.169C>T	16.37:g.28328881C>T	ENSP00000343248:p.Arg57Trp		OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.R57W	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			2	958	+			57			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.169C>T	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853431	0.71719	.	.	ENSG00000188322	ENST00000341901	T	0.24908	1.83	5.05	3.05	0.35203	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.121502	0.56097	D	0.000026	T	0.52853	0.1760	M	0.89715	3.055	0.47862	D	0.999538	D	0.89917	1.0	D	0.78314	0.991	T	0.54384	-0.8302	10	0.87932	D	0	-19.8734	7.7156	0.28702	0.1626:0.75:0.0:0.0874	.	57	Q52WX2	SBK1_HUMAN	W	57	ENSP00000343248:R57W	ENSP00000343248:R57W	R	+	1	2	SBK1	28236382	1.000000	0.71417	0.979000	0.43373	0.895000	0.52256	2.507000	0.45442	0.497000	0.27926	-0.136000	0.14681	CGG		0.627	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		5	81	0	0	0	1	0	5	81				
MRPL44	65080	broad.mit.edu	37	2	224831662	224831662	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:224831662C>G	ENST00000258383.3	+	4	979	c.910C>G	c.(910-912)Ctt>Gtt	p.L304V	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	304	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTTAGAAAACTTTATGGATT	0.453																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(910-912)Ctt>Gtt		mitochondrial ribosomal protein L44							94.0	104.0	100.0					2																	224831662		2203	4300	6503	SO:0001583	missense	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224831662C>G	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.910C>G	2.37:g.224831662C>G	ENSP00000258383:p.Leu304Val					AC073641.2_ENST00000425192.1_RNA	p.L304V	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	979	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	304			DRBM.		Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	c.910C>G	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436813	0.62955	.	.	ENSG00000135900	ENST00000258383	T	0.50277	0.75	5.88	5.0	0.66597	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.184862	0.48767	D	0.000172	T	0.55689	0.1936	L	0.56396	1.775	0.47778	D	0.999515	D	0.55800	0.973	P	0.53593	0.73	T	0.58216	-0.7675	10	0.54805	T	0.06	-20.5252	12.0284	0.53384	0.3137:0.6863:0.0:0.0	.	304	Q9H9J2	RM44_HUMAN	V	304	ENSP00000258383:L304V	ENSP00000258383:L304V	L	+	1	0	MRPL44	224539906	0.999000	0.42202	0.275000	0.24674	0.908000	0.53690	1.513000	0.35823	1.479000	0.48272	0.591000	0.81541	CTT		0.453	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		5	88	0	0	0	1	0	5	88				
BUB1B	701	broad.mit.edu	37	15	40468799	40468799	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr15:40468799G>A	ENST00000287598.6	+	5	701	c.506G>A	c.(505-507)aGg>aAg	p.R169K	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.R183K	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	169	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for interaction with CASC5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GAAAACTTTAGGAAAGCAGAT	0.418			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(505-507)aGg>aAg		BUB1 mitotic checkpoint serine/threonine kinase B							122.0	119.0	120.0					15																	40468799		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40468799G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.506G>A	15.37:g.40468799G>A	ENSP00000287598:p.Arg169Lys					BUB1B_ENST00000412359.3_Missense_Mutation_p.R183K|BUB1B_ENST00000560120.1_3'UTR	p.R169K	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	5	701	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	169			BUB1 N-terminal.|Necessary for interaction with CASC5.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.506G>A	CCDS10053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.300|5.300	0.240669|0.240669	0.10023|0.10023	.|.	.|.	ENSG00000156970|ENSG00000156970	ENST00000442874|ENST00000287598;ENST00000412359	.|T;T	.|0.61040	.|1.46;0.14	5.58|5.58	2.09|2.09	0.27110|0.27110	.|Mad3/BUB1 homology region 1 (3);	.|0.200242	.|0.43260	.|N	.|0.000599	.|T	.|0.21307	.|0.0513	N|N	0.01267|0.01267	-0.92|-0.92	0.25619|0.25619	N|N	0.986412|0.986412	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	.|T	.|0.32640	.|-0.9899	.|10	.|0.02654	.|T	.|1	.|-14.1679	9.2688|9.2688	0.37659|0.37659	0.7114:0.0:0.2886:0.0|0.7114:0.0:0.2886:0.0	.|.	.|183;169	.|O60566-3;O60566	.|.;BUB1B_HUMAN	.|K	-1|169;183	.|ENSP00000287598:R169K;ENSP00000398470:R183K	.|ENSP00000287598:R169K	.|R	+|+	.|2	.|0	BUB1B|BUB1B	38256091|38256091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	3.308000|3.308000	0.51896|0.51896	0.419000|0.419000	0.25927|0.25927	-0.302000|-0.302000	0.09304|0.09304	.|AGG		0.418	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			7	67	0	0	0	1	0	7	67				
OR2W5	441932	broad.mit.edu	37	1	247654618	247654618	+	RNA	SNP	T	T	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:247654618T>G	ENST00000522351.1	+	0	249							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACTTCTTTCTTGGGAATCTGT	0.517																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															128.0	117.0	121.0					1																	247654618		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654618T>G			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654618T>G										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	249	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.517	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		5	41	0	0	0	1	0	5	41				
ANKRD20A5P	440482	broad.mit.edu	37	18	14184164	14184164	+	RNA	SNP	A	A	T	rs201867812		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:14184164A>T	ENST00000581935.1	+	0	853							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						GTAAGGGTCAATTTTTTATAT	0.279																																						ENST00000581935.1																			0				lung(3)	3																																														440482							g.chr18:14184164A>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184164A>T														0	853	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.279	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			5	40	0	0	0	1	0	5	40				
PCDHA13	56136	broad.mit.edu	37	5	140263367	140263367	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140263367C>T	ENST00000289272.2	+	1	1514	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S505L|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	505	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCGCTGTCGAGCTACGTG	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1513-1515)tCg>tTg									64.0	65.0	65.0					5																	140263367		2203	4299	6502	SO:0001583	missense	56136							g.chr5:140263367C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1514C>T	5.37:g.140263367C>T	ENSP00000289272:p.Ser505Leu					PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S505L|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.S505L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1514	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1514C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183789	0.78677	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53206	0.63;0.63	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.65428	0.2690	L	0.58669	1.825	0.32895	D	0.512353	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.74023	0.982;0.844;0.965	T	0.73871	-0.3846	9	0.72032	D	0.01	.	16.4456	0.83928	0.0:1.0:0.0:0.0	.	505;505;505	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	505	ENSP00000386821:S505L;ENSP00000289272:S505L	ENSP00000289272:S505L	S	+	2	0	PCDHA13	140243551	0.070000	0.21116	1.000000	0.80357	0.933000	0.57130	3.608000	0.54109	2.386000	0.81285	0.556000	0.70494	TCG		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		20	109	0	0	0	1	0	20	109				
IL9R	3581	broad.mit.edu	37	X	155239601	155239601	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:155239601C>T	ENST00000244174.5	+	9	1272	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	IL9R_ENST00000424344.3_Missense_Mutation_p.R344C|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	365			R -> H (in dbSNP:rs2228650).		cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGCCCAGCGCGTCCTTGGAA	0.662																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1030-1032)Cgt>Tgt		interleukin 9 receptor							40.0	68.0	59.0					X																	155239601		1955	4258	6213	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239601C>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1093C>T	X.37:g.155239601C>T	ENSP00000244174:p.Arg365Cys					IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.R365C	p.R344C			Q01113	IL9R_HUMAN			10	1397	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		365					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1030C>T	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	0.371	-0.933886	0.02340	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10005	2.93;2.92	1.44	-2.88	0.05682	.	5.140280	0.00520	N	0.000181	T	0.07863	0.0197	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	9	0.35671	T	0.21	-9.2578	5.6694	0.17713	0.0:0.2741:0.5641:0.1618	.	365	Q01113	IL9R_HUMAN	C	365;344	ENSP00000244174:R365C;ENSP00000388918:R344C	ENSP00000244174:R365C	R	+	1	0	IL9R	154892795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.556000	0.00924	-1.629000	0.01546	-1.907000	0.00523	CGT		0.662	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		9	152	0	0	0	1	0	9	152				
ARHGAP26	23092	broad.mit.edu	37	5	142264901	142264901	+	Silent	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:142264901T>C	ENST00000274498.4	+	5	801	c.423T>C	c.(421-423)taT>taC	p.Y141Y	ARHGAP26_ENST00000378004.3_Silent_p.Y141Y	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	141					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAAAAGTATTGTGGCATCT	0.348																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(421-423)taT>taC		Rho GTPase activating protein 26							108.0	118.0	115.0					5																	142264901		2203	4300	6503	SO:0001819	synonymous_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142264901T>C	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.423T>C	5.37:g.142264901T>C						ARHGAP26_ENST00000274498.4_Silent_p.Y141Y	p.Y141Y	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	778	+		all_hematologic(541;0.0416)	141					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	c.423T>C	CCDS4277.1																																																																																				0.348	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		3	45	0	0	0	1	0	3	45				
MACF1	23499	broad.mit.edu	37	1	39785411	39785411	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:39785411A>G	ENST00000372915.3	+	30	4123	c.4036A>G	c.(4036-4038)Att>Gtt	p.I1346V	MACF1_ENST00000317713.7_Missense_Mutation_p.I1346V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.I1341V|MACF1_ENST00000567887.1_Missense_Mutation_p.I1378V|MACF1_ENST00000361689.2_Missense_Mutation_p.I1346V|MACF1_ENST00000545844.1_Missense_Mutation_p.I1346V|MACF1_ENST00000539005.1_Missense_Mutation_p.I1346V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1346					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTACTCTACTATTGTAAAGGT	0.358																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4021-4023)Att>Gtt		microtubule-actin crosslinking factor 1							82.0	82.0	82.0					1																	39785411		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39785411A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4036A>G	1.37:g.39785411A>G	ENSP00000362006:p.Ile1346Val					MACF1_ENST00000539005.1_Missense_Mutation_p.I1346V|MACF1_ENST00000545844.1_Missense_Mutation_p.I1346V|MACF1_ENST00000361689.2_Missense_Mutation_p.I1346V|MACF1_ENST00000372915.3_Missense_Mutation_p.I1346V|MACF1_ENST00000567887.1_Missense_Mutation_p.I1378V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.I1346V	p.I1341V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		31	4798	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1346					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4021A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.345|8.345	0.829591|0.829591	0.16749|0.16749	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;T;T|.	0.61859|.	0.1;0.14;0.1;0.07;0.26;2.02;2.02|.	5.66|5.66	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.17268|.	0.021;0.012;0.001|.	B;B;B|.	0.14023|.	0.01;0.008;0.007|.	T|T	0.23048|0.23048	-1.0199|-1.0199	9|5	0.21014|.	T|.	0.42|.	.|.	4.5057|4.5057	0.11887|0.11887	0.4886:0.3191:0.1923:0.0|0.4886:0.3191:0.1923:0.0	.|.	1346;1346;1311|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	V|C	1346;1346;1346;1346;1346;1304;1495|479	ENSP00000439537:I1346V;ENSP00000362006:I1346V;ENSP00000354573:I1346V;ENSP00000313438:I1346V;ENSP00000444364:I1346V;ENSP00000435070:I1304V;ENSP00000437059:I1495V|.	ENSP00000313438:I1346V|.	I|Y	+|+	1|2	0|0	MACF1|MACF1	39557998|39557998	0.003000|0.003000	0.15002|0.15002	0.864000|0.864000	0.33941|0.33941	0.802000|0.802000	0.45316|0.45316	1.253000|1.253000	0.32886|0.32886	0.419000|0.419000	0.25927|0.25927	0.254000|0.254000	0.18369|0.18369	ATT|TAT		0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	35	0	0	0	1	0	4	35				
XPOT	11260	broad.mit.edu	37	12	64814176	64814176	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:64814176C>T	ENST00000332707.5	+	8	1247	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	240	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.R240W(3)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAAGTTCTACGGGAAGAAGC	0.328																																						ENST00000332707.5																			3	Substitution - Missense(3)	p.R240W(3)	lung(2)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(718-720)Cgg>Tgg		exportin, tRNA							69.0	73.0	72.0					12																	64814176		2203	4298	6501	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64814176C>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.718C>T	12.37:g.64814176C>T	ENSP00000327821:p.Arg240Trp						p.R240W	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	8	1247	+			240			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.718C>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545012	0.86022	.	.	ENSG00000184575	ENST00000332707	T	0.72835	-0.69	4.89	4.89	0.63831	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.118823	0.64402	D	0.000020	D	0.86518	0.5952	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88033	0.2776	9	.	.	.	.	18.9398	0.92601	0.0:1.0:0.0:0.0	.	240	O43592	XPOT_HUMAN	W	240	ENSP00000327821:R240W	.	R	+	1	2	XPOT	63100443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.398000	0.44486	2.649000	0.89929	0.655000	0.94253	CGG		0.328	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		3	47	0	0	0	1	0	3	47				
DNMT3A	1788	broad.mit.edu	37	2	25469607	25469607	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:25469607G>A	ENST00000264709.3	-	10	1498	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	DNMT3A_ENST00000402667.1_Silent_p.C164C|DNMT3A_ENST00000380746.4_Silent_p.C198C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Silent_p.C387C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	387	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGTCGTGGCACACCGGGA	0.647			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1159-1161)tgC>tgT		DNA (cytosine-5-)-methyltransferase 3 alpha							81.0	80.0	81.0					2																	25469607		2203	4299	6502	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469607G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1161C>T	2.37:g.25469607G>A						DNMT3A_ENST00000402667.1_Silent_p.C164C|DNMT3A_ENST00000380746.4_Silent_p.C198C|DNMT3A_ENST00000321117.5_Silent_p.C387C	p.C387C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			10	1498	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		387			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1161C>T	CCDS33157.1																																																																																				0.647	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		4	113	0	0	0	1	0	4	113				
PCDH10	57575	broad.mit.edu	37	4	134071624	134071624	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:134071624T>A	ENST00000264360.5	+	1	1155	c.329T>A	c.(328-330)aTc>aAc	p.I110N	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGGTGGAGATCGAGGTGCTG	0.577																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(328-330)aTc>aAc		protocadherin 10							54.0	59.0	58.0					4																	134071624		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071624T>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.329T>A	4.37:g.134071624T>A	ENSP00000264360:p.Ile110Asn						p.I110N	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1155	+			110			Cadherin 1.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.329T>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558568	0.65538	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.54479	0.57	4.78	4.78	0.61160	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.46145	D	0.000315	T	0.72740	0.3498	M	0.93150	3.385	0.80722	D	1	D;P	0.55385	0.971;0.806	P;P	0.52710	0.654;0.707	T	0.81754	-0.0788	10	0.87932	D	0	.	14.1037	0.65075	0.0:0.0:0.0:1.0	.	110;110	Q9P2E7;Q96SF0	PCD10_HUMAN;.	N	110	ENSP00000264360:I110N	ENSP00000264360:I110N	I	+	2	0	PCDH10	134291074	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.081000	0.71309	1.995000	0.58328	0.454000	0.30748	ATC		0.577	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	104	0	0	0	1	0	10	104				
BCL3	602	broad.mit.edu	37	19	45254511	45254511	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:45254511G>T	ENST00000164227.5	+	2	528	c.284G>T	c.(283-285)cGg>cTg	p.R95L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	95	Pro-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TACCCCACTCGGGCCATGGGC	0.607			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(283-285)cGg>cTg		B-cell CLL/lymphoma 3							128.0	96.0	107.0					19																	45254511		2203	4300	6503	SO:0001583	missense	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45254511G>T	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.284G>T	19.37:g.45254511G>T	ENSP00000164227:p.Arg95Leu						p.R95L	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			2	528	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	95			Pro-rich.			Missense_Mutation	SNP	ENST00000164227.5	37	c.284G>T	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	G	8.050	0.765784	0.15983	.	.	ENSG00000069399	ENST00000403534;ENST00000164227	T	0.36340	1.26	5.04	1.68	0.24146	.	0.612948	0.13476	N	0.385073	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16335	-1.0406	10	0.62326	D	0.03	-4.0613	3.2144	0.06694	0.1784:0.5462:0.1797:0.0958	.	95	P20749	BCL3_HUMAN	L	55;95	ENSP00000164227:R95L	ENSP00000164227:R95L	R	+	2	0	BCL3	49946351	0.001000	0.12720	0.125000	0.21846	0.081000	0.17604	0.891000	0.28309	0.525000	0.28522	-0.565000	0.04167	CGG		0.607	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		11	89	1	0	1.08611e-07	1	1.15783e-07	11	89				
GGTLC1	92086	broad.mit.edu	37	20	23966523	23966523	+	Silent	SNP	C	C	T	rs3865760		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:23966523C>T	ENST00000335694.4	-	4	597	c.393G>A	c.(391-393)acG>acA	p.T131T	GGTLC1_ENST00000278765.4_Silent_p.T131T|GGTLC1_ENST00000286890.4_Silent_p.T131T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	131					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGGTGATCTGCGTGCCCCCGG	0.652																																						ENST00000335694.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(391-393)acG>acA		gamma-glutamyltransferase light chain 1							112.0	121.0	118.0					20																	23966523		1511	2709	4220	SO:0001819	synonymous_variant	92086						gamma-glutamyltransferase activity	g.chr20:23966523C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.393G>A	20.37:g.23966523C>T						GGTLC1_ENST00000286890.4_Silent_p.T131T|GGTLC1_ENST00000278765.4_Silent_p.T131T	p.T131T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			4	597	-			131					D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	c.393G>A	CCDS13163.1																																																																																				0.652	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		28	146	0	0	0	1	0	28	146				
PCDH10	57575	broad.mit.edu	37	4	134072242	134072242	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:134072242T>G	ENST00000264360.5	+	1	1773	c.947T>G	c.(946-948)tTg>tGg	p.L316W	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCGGCGAGTTGGACTATGAA	0.622																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(946-948)tTg>tGg		protocadherin 10							68.0	63.0	65.0					4																	134072242		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072242T>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.947T>G	4.37:g.134072242T>G	ENSP00000264360:p.Leu316Trp						p.L316W	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1773	+			316			Cadherin 3.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.947T>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604047	0.66445	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.75154	-0.91	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.35970	N	0.002873	D	0.90793	0.7109	H	0.98005	4.125	0.49299	D	0.999779	D;D	0.89917	0.999;1.0	D;D	0.91635	0.969;0.999	D	0.93730	0.7040	10	0.87932	D	0	.	13.3655	0.60680	0.0:0.0:0.0:1.0	.	316;316	Q9P2E7;Q96SF0	PCD10_HUMAN;.	W	316	ENSP00000264360:L316W	ENSP00000264360:L316W	L	+	2	0	PCDH10	134291692	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.818000	0.86416	1.810000	0.52873	0.334000	0.21626	TTG		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	103	0	0	0	1	0	10	103				
UBR4	23352	broad.mit.edu	37	1	19464666	19464666	+	Missense_Mutation	SNP	C	C	T	rs147072344		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:19464666C>T	ENST00000375254.3	-	60	8768	c.8741G>A	c.(8740-8742)cGg>cAg	p.R2914Q	UBR4_ENST00000375217.2_Missense_Mutation_p.R2907Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R2890Q|UBR4_ENST00000375267.2_Missense_Mutation_p.R2914Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2914					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCACTGCTCCGGCCAGATAC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20301	0.0		0.001	False		,,,				2504	0.0					ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8740-8742)cGg>cAg		ubiquitin protein ligase E3 component n-recognin 4		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	55.0	56.0		8741	5.9	1.0	1	dbSNP_134	56	4,8596	3.7+/-12.6	0,4,4296	yes	missense	UBR4	NM_020765.2	43	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging	2914/5184	19464666	5,13001	2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19464666C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8741G>A	1.37:g.19464666C>T	ENSP00000364403:p.Arg2914Gln					UBR4_ENST00000375226.2_Missense_Mutation_p.R2890Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R2907Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R2914Q	p.R2914Q			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	60	8744	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2914					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8741G>A	CCDS189.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.632648	0.96682	2.27E-4	4.65E-4	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.35048	1.33;1.33;1.47;1.45	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.67397	2.05	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.50890	-0.8774	10	0.37606	T	0.19	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	2914	Q5T4S7	UBR4_HUMAN	Q	2914;2914;2907;2890;522;1600	ENSP00000364403:R2914Q;ENSP00000364416:R2914Q;ENSP00000364365:R2907Q;ENSP00000364374:R2890Q	ENSP00000364365:R2907Q	R	-	2	0	UBR4	19337253	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.229000	0.78088	2.826000	0.97356	0.655000	0.94253	CGG		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	40	0	0	0	1	0	8	40				
FDXR	2232	broad.mit.edu	37	17	72859026	72859026	+	Silent	SNP	G	G	C	rs377550277		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:72859026G>C	ENST00000293195.5	-	12	1467	c.1389C>G	c.(1387-1389)gcC>gcG	p.A463A	GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000583917.1_Silent_p.A435A|FDXR_ENST00000413947.2_Silent_p.A494A|FDXR_ENST00000544854.1_Silent_p.A411A|FDXR_ENST00000420580.2_Silent_p.A423A|FDXR_ENST00000442102.2_Silent_p.A506A|FDXR_ENST00000582944.1_Silent_p.A455A|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000581530.1_Silent_p.A469A|FDXR_ENST00000455107.2_3'UTR	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	463					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCACCTCCTCGGCATCCAGCT	0.657																																						ENST00000442102.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1516-1518)gcC>gcG		ferredoxin reductase							42.0	51.0	48.0					17																	72859026		2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72859026G>C	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1389C>G	17.37:g.72859026G>C						FDXR_ENST00000581530.1_Silent_p.A469A|FDXR_ENST00000583917.1_Silent_p.A435A|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000582944.1_Silent_p.A455A|FDXR_ENST00000544854.1_Silent_p.A411A|FDXR_ENST00000420580.2_Silent_p.A423A|FDXR_ENST00000293195.5_Silent_p.A463A|FDXR_ENST00000413947.2_Silent_p.A494A	p.A506A	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN			12	1604	-	all_lung(278;0.172)|Lung NSC(278;0.207)		463					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.1518C>G	CCDS58593.1																																																																																				0.657	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		6	84	0	0	0	1	0	6	84				
COL11A1	1301	broad.mit.edu	37	1	103381222	103381222	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:103381222C>G	ENST00000370096.3	-	50	4093	c.3781G>C	c.(3781-3783)Ggg>Cgg	p.G1261R	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1273R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1145R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1222R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1261	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGGTTCCCTGCTTCTCCA	0.353																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3817-3819)Ggg>Cgg		collagen, type XI, alpha 1							100.0	101.0	100.0					1																	103381222		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103381222C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3781G>C	1.37:g.103381222C>G	ENSP00000359114:p.Gly1261Arg					COL11A1_ENST00000512756.1_Missense_Mutation_p.G1145R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1222R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1261R	p.G1273R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	50	4134	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1261			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3817G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834317	0.71373	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97959	-4.29;-4.22;-4.29;-4.63	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;1.0;0.999;0.999	D	0.99246	1.0886	10	0.87932	D	0	.	18.9027	0.92449	0.0:1.0:0.0:0.0	.	1145;1222;1273;1261;481	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1261;1273;1222;481;1145	ENSP00000359114:G1261R;ENSP00000351163:G1273R;ENSP00000302551:G1222R;ENSP00000426533:G1145R	ENSP00000302551:G1222R	G	-	1	0	COL11A1	103153810	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.150000	0.77403	2.559000	0.86315	0.585000	0.79938	GGG		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	80	0	0	0	1	0	11	80				
SERPIND1	3053	broad.mit.edu	37	22	21134193	21134193	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr22:21134193T>C	ENST00000215727.5	+	2	876	c.593T>C	c.(592-594)aTt>aCt	p.I198T	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.I198T|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	198	Glycosaminoglycan-binding site.				blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	ATCACGACCATTCATAATCTC	0.428																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(592-594)aTt>aCt		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						103.0	101.0	101.0					22																	21134193		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134193T>C	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.593T>C	22.37:g.21134193T>C	ENSP00000215727:p.Ile198Thr					PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.I198T	p.I198T	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	876	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	198			Glycosaminoglycan-binding site.		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.593T>C	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233551	0.79688	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.85258	-1.96;-1.96	5.97	5.97	0.96955	Serpin domain (3);	0.297960	0.36628	N	0.002500	D	0.88804	0.6536	M	0.69248	2.105	0.46222	D	0.998934	P;P	0.52577	0.954;0.896	P;P	0.51895	0.683;0.683	D	0.89966	0.4090	10	0.87932	D	0	.	16.4504	0.83984	0.0:0.0:0.0:1.0	.	198;198	Q8IVC0;P05546	.;HEP2_HUMAN	T	198	ENSP00000215727:I198T;ENSP00000384050:I198T	ENSP00000215727:I198T	I	+	2	0	SERPIND1	19464193	1.000000	0.71417	0.089000	0.20774	0.838000	0.47535	8.033000	0.88852	2.288000	0.76882	0.533000	0.62120	ATT		0.428	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		9	91	0	0	0	1	0	9	91				
CR2	1380	broad.mit.edu	37	1	207647012	207647012	+	Intron	SNP	T	T	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:207647012T>A	ENST00000367058.3	+	11	2167				CR2_ENST00000367059.3_Intron|CR2_ENST00000458541.2_Intron|CR2_ENST00000367057.3_Missense_Mutation_p.S701T	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2						B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGGAAACAAATCCATTCACTG	0.458																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2101-2103)Tcc>Acc		complement component (3d/Epstein Barr virus) receptor 2							170.0	165.0	166.0					1																	207647012		2203	4300	6503	SO:0001627	intron_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207647012T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1979-134T>A	1.37:g.207647012T>A						CR2_ENST00000458541.2_Intron|CR2_ENST00000367058.3_Intron|CR2_ENST00000367059.3_Intron	p.S701T	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			11	2290	+			716			Sushi 11.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2101T>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987819	0.53934	.	.	ENSG00000117322	ENST00000367057	T	0.62788	0.0	5.41	2.92	0.33932	.	.	.	.	.	T	0.38348	0.1037	L	0.31207	0.915	0.80722	D	1	B	0.33637	0.42	B	0.28465	0.09	T	0.13548	-1.0505	9	0.07990	T	0.79	.	5.0403	0.14456	0.1592:0.0889:0.0:0.7519	.	701	P20023-3	.	T	701	ENSP00000356024:S701T	ENSP00000356024:S701T	S	+	1	0	CR2	205713635	0.145000	0.22656	0.992000	0.48379	0.996000	0.88848	0.212000	0.17497	0.849000	0.35215	0.533000	0.62120	TCC		0.458	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		12	129	0	0	0	1	0	12	129				
OR5M10	390167	broad.mit.edu	37	11	56344479	56344479	+	Missense_Mutation	SNP	G	G	A	rs200945406	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:56344479G>A	ENST00000526812.2	-	1	784	c.719C>T	c.(718-720)aCg>aTg	p.T240M		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGAAGCACACGTAGAAAAGGC	0.448													G|||	10	0.00199681	0.0076	0.0	5008	,	,		20378	0.0		0.0	False		,,,				2504	0.0					ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(718-720)aCg>aTg		olfactory receptor, family 5, subfamily M, member 10		G	MET/THR	22,3578		0,22,1778	66.0	63.0	64.0		719	4.2	0.0	11		64	0,8062		0,0,4031	no	missense	OR5M10	NM_001004741.1	81	0,22,5809	AA,AG,GG		0.0,0.6111,0.1886	probably-damaging	240/316	56344479	22,11640	1800	4031	5831	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344479G>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.719C>T	11.37:g.56344479G>A	ENSP00000436004:p.Thr240Met						p.T240M	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	784	-			240					B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.719C>T	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450915	0.43531	0.006111	0.0	ENSG00000254834	ENST00000526812	T	0.42513	0.97	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70518	0.3233	H	0.97874	4.095	0.46298	D	0.998973	D	0.89917	1.0	D	0.74348	0.983	D	0.84854	0.0815	9	0.87932	D	0	.	15.6851	0.77402	0.0:0.0:1.0:0.0	.	240	Q6IEU7	OR5MA_HUMAN	M	240	ENSP00000436004:T240M	ENSP00000436004:T240M	T	-	2	0	OR5M10	56101055	0.976000	0.34144	0.028000	0.17463	0.007000	0.05969	2.590000	0.46154	2.316000	0.78162	0.632000	0.83419	ACG		0.448	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		16	117	0	0	0	1	0	16	117				
ACTR3B	57180	broad.mit.edu	37	7	152511678	152511678	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:152511678C>A	ENST00000256001.8	+	5	514	c.380C>A	c.(379-381)gCa>gAa	p.A127E	ACTR3B_ENST00000397282.2_Missense_Mutation_p.A39E|ACTR3B_ENST00000537264.1_Missense_Mutation_p.A39E|ACTR3B_ENST00000488782.1_3'UTR|ACTR3B_ENST00000377776.3_Missense_Mutation_p.A127E	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	127						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAGTATCTTGCAGAAATTATG	0.363																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(379-381)gCa>gAa		ARP3 actin-related protein 3 homolog B (yeast)							121.0	116.0	118.0					7																	152511678		2203	4300	6503	SO:0001583	missense	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152511678C>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.380C>A	7.37:g.152511678C>A	ENSP00000256001:p.Ala127Glu					ACTR3B_ENST00000537264.1_Missense_Mutation_p.A39E|ACTR3B_ENST00000488782.1_3'UTR|ACTR3B_ENST00000377776.3_Missense_Mutation_p.A127E|ACTR3B_ENST00000397282.2_Missense_Mutation_p.A39E	p.A127E	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	5	514	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	127					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	c.380C>A	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919073	0.92249	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	4.85	4.85	0.62838	.	0.000000	0.64402	U	0.000012	D	0.98476	0.9492	H	0.98466	4.24	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99852	1.1073	10	0.87932	D	0	-9.1831	16.9728	0.86304	0.0:1.0:0.0:0.0	.	127;127	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	E	127;127;39;39	ENSP00000367007:A127E;ENSP00000256001:A127E;ENSP00000380452:A39E;ENSP00000446157:A39E	ENSP00000256001:A127E	A	+	2	0	ACTR3B	152142611	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.510000	0.81708	2.240000	0.73641	0.484000	0.47621	GCA		0.363	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		5	62	1	0	5.9392e-07	1	6.21416e-07	5	62				
SLK	9748	broad.mit.edu	37	10	105781483	105781483	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:105781483A>G	ENST00000369755.3	+	18	4098	c.3553A>G	c.(3553-3555)Agg>Ggg	p.R1185G	SLK_ENST00000335753.4_Missense_Mutation_p.R1154G	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1185					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATTGAGACCTAGGAAAAAGGT	0.393																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(3553-3555)Agg>Ggg		STE20-like kinase							63.0	65.0	64.0					10																	105781483		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105781483A>G		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3553A>G	10.37:g.105781483A>G	ENSP00000358770:p.Arg1185Gly					SLK_ENST00000335753.4_Missense_Mutation_p.R1154G	p.R1185G	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	18	4098	+		Colorectal(252;0.178)	1185					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3553A>G	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665697	0.67700	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	D;D	0.81996	-1.56;-1.54	5.11	2.67	0.31697	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89891	0.6846	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.89462	0.3737	10	0.87932	D	0	.	12.3524	0.55155	0.5316:0.4684:0.0:0.0	.	1154;1185	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	G	1154;1185	ENSP00000336824:R1154G;ENSP00000358770:R1185G	ENSP00000336824:R1154G	R	+	1	2	SLK	105771473	0.862000	0.29867	0.999000	0.59377	0.995000	0.86356	1.846000	0.39289	0.320000	0.23234	0.459000	0.35465	AGG		0.393	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		5	38	0	0	0	1	0	5	38				
TOPORS	10210	broad.mit.edu	37	9	32542793	32542793	+	Missense_Mutation	SNP	G	G	T	rs79708790	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:32542793G>T	ENST00000360538.2	-	3	1846	c.1730C>A	c.(1729-1731)tCt>tAt	p.S577Y	TOPORS_ENST00000379858.1_Missense_Mutation_p.S512Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	577	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCCTCTTACAGATGAGTTCAG	0.378													G|||	2	0.000399361	0.0	0.0014	5008	,	,		22549	0.0		0.001	False		,,,				2504	0.0					ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1729-1731)tCt>tAt		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase		G	TYR/SER,TYR/SER	0,4406		0,0,2203	176.0	175.0	175.0		1535,1730	5.7	0.8	9	dbSNP_131	175	30,8570	20.4+/-63.3	0,30,4270	yes	missense,missense	TOPORS	NM_001195622.1,NM_005802.4	144,144	0,30,6473	TT,TG,GG		0.3488,0.0,0.2307	possibly-damaging,possibly-damaging	512/981,577/1046	32542793	30,12976	2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542793G>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1730C>A	9.37:g.32542793G>T	ENSP00000353735:p.Ser577Tyr					TOPORS_ENST00000379858.1_Missense_Mutation_p.S512Y	p.S577Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1846	-			577			Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1730C>A	CCDS6527.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	4.776	0.144262	0.09134	0.0	0.003488	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17528	2.3;2.27	5.65	5.65	0.86999	.	0.000000	0.39615	N	0.001311	T	0.18718	0.0449	N	0.24115	0.695	0.40496	D	0.980597	P	0.48407	0.91	P	0.45946	0.498	T	0.01212	-1.1417	10	0.72032	D	0.01	-10.5062	18.4994	0.90876	0.0:0.0:1.0:0.0	.	577	Q9NS56	TOPRS_HUMAN	Y	577;512	ENSP00000353735:S577Y;ENSP00000369187:S512Y	ENSP00000353735:S577Y	S	-	2	0	TOPORS	32532793	1.000000	0.71417	0.754000	0.31244	0.181000	0.23173	6.680000	0.74518	2.655000	0.90218	0.557000	0.71058	TCT		0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		8	92	1	0	0.000274275	1	0.000279217	8	92				
CYP2B6	1555	broad.mit.edu	37	19	41497219	41497219	+	Silent	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:41497219C>A	ENST00000324071.4	+	1	16	c.9C>A	c.(7-9)ctC>ctA	p.L3L		NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	3					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCATGGAACTCAGCGTCCTCC	0.592																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(7-9)ctC>ctA		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						122.0	111.0	115.0					19																	41497219		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41497219C>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.9C>A	19.37:g.41497219C>A							p.L3L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		1	16	+			3					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.9C>A	CCDS12570.1																																																																																				0.592	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		28	133	1	0	8.24728e-16	1	9.31943e-16	28	133				
RBM19	9904	broad.mit.edu	37	12	114395756	114395756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:114395756G>T	ENST00000545145.2	-	6	749	c.671C>A	c.(670-672)tCg>tAg	p.S224*	RBM19_ENST00000392561.3_Nonsense_Mutation_p.S224*|RBM19_ENST00000261741.5_Nonsense_Mutation_p.S224*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	224					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCTTCCTCCGAGGAAGAGGA	0.557																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(670-672)tCg>tAg		RNA binding motif protein 19							123.0	111.0	115.0					12																	114395756		2203	4300	6503	SO:0001587	stop_gained	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114395756G>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.671C>A	12.37:g.114395756G>T	ENSP00000442053:p.Ser224*					RBM19_ENST00000261741.5_Nonsense_Mutation_p.S224*|RBM19_ENST00000392561.3_Nonsense_Mutation_p.S224*	p.S224*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			6	749	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		224					A8K5X9|Q9BPY6|Q9UFN5	Nonsense_Mutation	SNP	ENST00000545145.2	37	c.671C>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	8.672	0.903155	0.17760	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	.	.	.	3.15	-0.578	0.11724	.	3.106880	0.01201	N	0.007575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	8.4015	6.6366	0.22887	0.0:0.1648:0.2669:0.5682	.	.	.	.	X	224	.	ENSP00000261741:S224X	S	-	2	0	RBM19	112880139	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.362000	0.20284	-0.114000	0.11936	-1.028000	0.02416	TCG		0.557	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		11	83	1	0	2.80697e-09	1	3.04989e-09	11	83				
PPP1R12B	4660	broad.mit.edu	37	1	202394713	202394713	+	Silent	SNP	A	A	G	rs147755572	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:202394713A>G	ENST00000608999.1	+	4	714	c.561A>G	c.(559-561)tcA>tcG	p.S187S	PPP1R12B_ENST00000356764.2_Silent_p.S187S|PPP1R12B_ENST00000336894.4_Silent_p.S187S|PPP1R12B_ENST00000480184.1_Silent_p.S187S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	187					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAGAGCAGTCAAGAAAAGAAG	0.478																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(559-561)tcA>tcG		protein phosphatase 1, regulatory subunit 12B							197.0	218.0	211.0					1																	202394713		2203	4300	6503	SO:0001819	synonymous_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202394713A>G	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.561A>G	1.37:g.202394713A>G						PPP1R12B_ENST00000356764.2_Silent_p.S187S|PPP1R12B_ENST00000336894.4_Silent_p.S187S|PPP1R12B_ENST00000480184.1_Silent_p.S187S	p.S187S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	714	+			187					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	ENST00000608999.1	37	c.561A>G	CCDS1426.1																																																																																				0.478	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		9	310	0	0	0	1	0	9	310				
ANK2	287	broad.mit.edu	37	4	114262919	114262919	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:114262919C>T	ENST00000357077.4	+	33	4022	c.3969C>T	c.(3967-3969)tgC>tgT	p.C1323C	ANK2_ENST00000509550.1_Silent_p.C499C|ANK2_ENST00000394537.3_Silent_p.C1323C|ANK2_ENST00000264366.6_Silent_p.C1290C|ANK2_ENST00000506722.1_Silent_p.C1314C|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000510275.2_5'Flank	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1323	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.C1323C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAATTATCTGCGTACCTTATA	0.378																																						ENST00000357077.4																			1	Substitution - coding silent(1)	p.C1323C(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3967-3969)tgC>tgT		ankyrin 2, neuronal							143.0	146.0	145.0					4																	114262919		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114262919C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3969C>T	4.37:g.114262919C>T						ANK2_ENST00000509550.1_Silent_p.C499C|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000264366.6_Silent_p.C1290C|ANK2_ENST00000394537.3_Silent_p.C1323C|ANK2_ENST00000506722.1_Silent_p.C1314C	p.C1323C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	33	4022	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1290					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.3969C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	9.925	1.213296	0.22289	.	.	ENSG00000145362	ENST00000514960;ENST00000504415	.	.	.	5.68	0.668	0.17912	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47923	-0.9079	4	.	.	.	.	9.095	0.36634	0.0:0.2871:0.0:0.7129	.	.	.	.	C	336;18	.	.	R	+	1	0	ANK2	114482368	0.991000	0.36638	0.998000	0.56505	0.985000	0.73830	0.224000	0.17738	0.109000	0.17891	-0.469000	0.05056	CGT		0.378	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	109	0	0	0	1	0	8	109				
ENOX2	10495	broad.mit.edu	37	X	129761945	129761945	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:129761945C>T	ENST00000370927.1	-	12	1709	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	ENOX2_ENST00000338144.3_Missense_Mutation_p.R563H|ENOX2_ENST00000394363.1_Missense_Mutation_p.R534H|ENOX2_ENST00000370935.1_Missense_Mutation_p.R534H			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	563					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATTATCAAGACGGTGCAAGTA	0.433																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1687-1689)cGt>cAt		ecto-NOX disulfide-thiol exchanger 2							309.0	266.0	281.0					X																	129761945		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129761945C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1688G>A	X.37:g.129761945C>T	ENSP00000359965:p.Arg563His					ENOX2_ENST00000370935.1_Missense_Mutation_p.R534H|ENOX2_ENST00000370927.1_Missense_Mutation_p.R563H|ENOX2_ENST00000394363.1_Missense_Mutation_p.R534H	p.R563H	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			15	2105	-			563					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1688G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335896	0.81801	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	5.02	5.02	0.67125	.	0.059429	0.64402	D	0.000002	T	0.45816	0.1361	M	0.70275	2.135	0.50632	D	0.999885	B;P	0.47762	0.181;0.9	B;B	0.32928	0.032;0.155	T	0.53711	-0.8400	8	.	.	.	-9.3611	12.4083	0.55453	0.0:1.0:0.0:0.0	.	563;591	Q16206;A4QPE1	ENOX2_HUMAN;.	H	534;563;534;591;563	.	.	R	-	2	0	ENOX2	129589626	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.100000	0.64560	2.321000	0.78463	0.600000	0.82982	CGT		0.433	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		21	153	0	0	0	1	0	21	153				
ZRANB3	84083	broad.mit.edu	37	2	135965292	135965292	+	Silent	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:135965292T>C	ENST00000264159.6	-	19	2837	c.2721A>G	c.(2719-2721)gaA>gaG	p.E907E	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.E905E|ZRANB3_ENST00000401392.1_Silent_p.E905E	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	907					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGGATTTCCTTCATTATCCA	0.468																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2713-2715)gaA>gaG		zinc finger, RAN-binding domain containing 3							171.0	161.0	164.0					2																	135965292		1964	4156	6120	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965292T>C	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2721A>G	2.37:g.135965292T>C						ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.E905E|ZRANB3_ENST00000264159.6_Silent_p.E907E	p.E905E			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	2927	-			907					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.2715A>G	CCDS46419.1																																																																																				0.468	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		6	152	0	0	0	1	0	6	152				
KCNH6	81033	broad.mit.edu	37	17	61615533	61615533	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:61615533C>G	ENST00000583023.1	+	7	1620	c.1609C>G	c.(1609-1611)Cgc>Ggc	p.R537G	KCNH6_ENST00000314672.5_Missense_Mutation_p.R537G|KCNH6_ENST00000456941.2_Missense_Mutation_p.R484G|KCNH6_ENST00000581784.1_Missense_Mutation_p.R484G	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	537					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGAGTTCATCCGCTTCCACCA	0.617																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1609-1611)Cgc>Ggc		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						89.0	78.0	82.0					17																	61615533		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61615533C>G	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1609C>G	17.37:g.61615533C>G	ENSP00000463533:p.Arg537Gly					KCNH6_ENST00000581784.1_Missense_Mutation_p.R484G|KCNH6_ENST00000314672.5_Missense_Mutation_p.R537G|KCNH6_ENST00000456941.2_Missense_Mutation_p.R484G	p.R537G	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			7	1620	+			537					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1609C>G	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847715	0.71603	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.96913	-4.17;-4.17	3.95	3.95	0.45737	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.92219	3.285	0.80722	D	1	D;P;D;P	0.65815	0.995;0.754;0.985;0.643	D;B;P;P	0.66351	0.943;0.446;0.836;0.527	D	0.99727	1.1011	10	0.87932	D	0	.	16.1793	0.81889	0.0:1.0:0.0:0.0	.	414;537;484;537	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	G	537;484	ENSP00000318212:R537G;ENSP00000396900:R484G	ENSP00000318212:R537G	R	+	1	0	KCNH6	58969265	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.785000	0.68998	2.042000	0.60477	0.313000	0.20887	CGC		0.617	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		9	79	0	0	0	1	0	9	79				
NLN	57486	broad.mit.edu	37	5	65058924	65058924	+	Missense_Mutation	SNP	G	G	T	rs145570663		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:65058924G>T	ENST00000380985.5	+	3	617	c.439G>T	c.(439-441)Gtt>Ttt	p.V147F	NLN_ENST00000502464.1_Missense_Mutation_p.V43F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	147						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAGAGAATTGTTCATTTACA	0.343																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(439-441)Gtt>Ttt		neurolysin (metallopeptidase M3 family)							106.0	104.0	105.0					5																	65058924		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65058924G>T	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.439G>T	5.37:g.65058924G>T	ENSP00000370372:p.Val147Phe					NLN_ENST00000502464.1_Missense_Mutation_p.V43F	p.V147F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	3	617	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	147					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.439G>T	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748360	0.49257	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	T;T	0.08193	3.12;3.12	5.65	5.65	0.86999	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.549842	0.19499	N	0.112761	T	0.09774	0.0240	L	0.48877	1.53	0.45747	D	0.998642	B;B	0.28850	0.225;0.182	B;B	0.24155	0.051;0.042	T	0.11446	-1.0587	10	0.33940	T	0.23	-14.1134	14.8924	0.70620	0.0:0.0:0.8567:0.1433	.	147;147	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	F	147;43;147	ENSP00000370372:V147F;ENSP00000423214:V43F	ENSP00000339283:V147F	V	+	1	0	NLN	65094680	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.421000	0.52742	2.827000	0.97445	0.650000	0.86243	GTT		0.343	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			6	50	1	0	3.59834e-05	1	3.69647e-05	6	50				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			8	9						8	9	---	---	---	---
SH2D5	400745	broad.mit.edu	37	1	21050684	21050684	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:21050684delA	ENST00000444387.2	-	7	1088	c.691delT	c.(691-693)tcgfs	p.S231fs	SH2D5_ENST00000375031.1_Frame_Shift_Del_p.S147fs|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	231										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCGTGGGCGAGCAGTAGGGA	0.677																																						ENST00000375031.1																			0				lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(439-441)cgfs		SH2 domain containing 5							55.0	65.0	61.0					1																	21050684		2096	4201	6297	SO:0001589	frameshift_variant	400745							g.chr1:21050684delA	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.691delT	1.37:g.21050684delA	ENSP00000406026:p.Ser231fs					SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Frame_Shift_Del_p.S231fs	p.S147fs	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1063	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	147					B7Z3W3|Q5SSJ2	Frame_Shift_Del	DEL	ENST00000444387.2	37	c.439delT	CCDS44080.1																																																																																				0.677	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		10	178						10	178	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214813371	214813371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:214813371G>T	ENST00000366955.3	+	12	1858	c.1690G>T	c.(1690-1692)Gaa>Taa	p.E564*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGCTGATCTGGAAAAGCAGCG	0.368																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(1690-1692)Gaa>Taa		centromere protein F, 350/400kDa							104.0	114.0	110.0					1																	214813371		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214813371G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1690G>T	1.37:g.214813371G>T	ENSP00000355922:p.Glu564*						p.E564*	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	1858	+			564					Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.1690G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	39	7.297886	0.98196	.	.	ENSG00000117724	ENST00000366955	.	.	.	4.95	4.01	0.46588	.	0.200655	0.24688	N	0.036416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.2846	0.73819	0.0:0.1411:0.8589:0.0	.	.	.	.	X	564	.	ENSP00000355922:E564X	E	+	1	0	CENPF	212879994	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.717000	0.68446	1.164000	0.42652	0.543000	0.68304	GAA		0.368	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		26	156	1	0	2.41591e-17	1	2.78569e-17	26	156				
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		8	410						8	410	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		8	254						8	254	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180419832	180419833	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:180419832_180419833insCC	ENST00000342868.6	+	2	253_254	c.69_70insCC	c.(70-72)ccgfs	p.P24fs		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	24						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AAGTCACTGGACCGGGCAAGTT	0.554																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(67-72)ggcgggfs		butyrophilin-like 3																																				SO:0001589	frameshift_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180419832_180419833insCC	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.70_71dupCC	5.37:g.180419833_180419834dupCC	ENSP00000341787:p.Pro24fs						p.G24fs	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		2	253_254	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	24					Q496L7|Q9Y2C7	Frame_Shift_Ins	INS	ENST00000342868.6	37	c.69_70insCC	CCDS47358.1																																																																																				0.554	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		12	33						12	33	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56310657	56310658	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:56310657_56310658delAG	ENST00000528616.2	-	1	99_100	c.76_77delCT	c.(76-78)ctgfs	p.L27fs		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACAAAAAGCAGAGACTGGAGT	0.475																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(76-78)gfs		olfactory receptor, family 5, subfamily M, member 11																																				SO:0001589	frameshift_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310657_56310658delAG	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.76_77delCT	11.37:g.56310659_56310660delAG	ENSP00000432417:p.Leu27fs						p.L27fs	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	99_100	-			27					B2RNL5|B2RNL7	Frame_Shift_Del	DEL	ENST00000528616.2	37	c.76_77delCT	CCDS53629.1																																																																																				0.475	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		7	116						7	116	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94517596	94517598	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr14:94517596_94517598delTCT	ENST00000330836.5	-	9	2650_2652	c.2519_2521delAGA	c.(2518-2523)aagaca>aca	p.K840del	DDX24_ENST00000555054.1_In_Frame_Del_p.K797del|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_In_Frame_Del_p.K590del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	840	Poly-Lys.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCTTCTTTGTCTTCTTCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(2518-2523)aca>a		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94517596_94517598delTCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2519_2521delAGA	14.37:g.94517605_94517607delTCT	ENSP00000328690:p.Lys840del		OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1306	DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del|DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del|DDX24_ENST00000553400.1_5'UTR	p.KT840del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	9	2650_2652	-		all_cancers(154;0.12)	840			Poly-Lys.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.2519_2521delAGA	CCDS9918.1																																																																																				0.512	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		7	88						7	88	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:7578397_7578398insGG	ENST00000269305.4	-	5	721_722	c.532_533insCC	c.(532-534)cacfs	p.H178fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.H178fs	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	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCGCTCATGGTGGGGGCAGCGC	0.644		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"""		107	Deletion - Frameshift(38)|Substitution - Missense(27)|Deletion - In frame(26)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(23)|breast(14)|upper_aerodigestive_tract(11)|ovary(9)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|endometrium(6)|skin(6)|oesophagus(5)|bone(5)|lung(4)|stomach(3)|liver(2)|pancreas(2)|thyroid(1)|vulva(1)|biliary_tract(1)|urinary_tract(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	CD983489	TP53	D	rs68130327	c.(532-534)ccafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578397_7578398insGG	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.531_532dupCC	17.37:g.7578400_7578401dupGG	ENSP00000269305:p.His178fs	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_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs	p.P178fs	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)	5	664_665	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	178		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.532_533insCC	CCDS11118.1																																																																																				0.644	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	41						33	41	---	---	---	---
GDF5	8200	broad.mit.edu	37	20	34025503	34025504	+	Frame_Shift_Ins	INS	-	-	C	rs374059504|rs542574339		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:34025503_34025504insC	ENST00000374372.1	-	3	708_709	c.205_206insG	c.(205-207)gccfs	p.A69fs	GDF5_ENST00000374369.3_Frame_Shift_Ins_p.A69fs			P43026	GDF5_HUMAN	growth differentiation factor 5	69					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGCATTGGTGGCCCCCCCACCA	0.663																																						ENST00000374372.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	GRCh37	CI972616	GDF5	I		c.(205-207)cacfs		growth differentiation factor 5																																				SO:0001589	frameshift_variant	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34025503_34025504insC	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.206dupG	20.37:g.34025510_34025510dupC	ENSP00000363492:p.Ala69fs					GDF5_ENST00000374369.3_Frame_Shift_Ins_p.H69fs	p.H69fs			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		3	708_709	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		69					E1P5Q2|Q96SB1	Frame_Shift_Ins	INS	ENST00000374372.1	37	c.205_206insG	CCDS13254.1																																																																																				0.663	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			53	25						53	25	---	---	---	---
