#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
C8A	731	broad.mit.edu	37	1	57333307	57333307	+	Missense_Mutation	SNP	G	G	A	rs201034819		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:57333307G>A	ENST00000361249.3	+	2	199	c.103G>A	c.(103-105)Gca>Aca	p.A35T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	35					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.A35T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCTACACCCGCAGCAGTTAC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		17292	0.0		0.001	False		,,,				2504	0.0					uc001cyo.2																			1	Substitution - Missense(1)	p.A35T(2)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(103-105)Gca>Aca		Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.							74.0	67.0	69.0					1																	57333307		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57333307G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.103G>A	1.37:g.57333307G>A	ENSP00000354458:p.Ala35Thr						p.A35T	NM_000562	NP_000553	P07357	CO8A_HUMAN			1	235	+			35					A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.103G>A	CCDS606.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.848	0.340618	0.11069	.	.	ENSG00000157131	ENST00000361249	T	0.76186	-1.0	5.09	-8.4	0.00965	.	1.130590	0.06250	N	0.691972	T	0.46639	0.1403	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29852	-0.9998	10	0.12430	T	0.62	1.9357	3.8445	0.08928	0.1647:0.1197:0.4805:0.2351	.	35	P07357	CO8A_HUMAN	T	35	ENSP00000354458:A35T	ENSP00000354458:A35T	A	+	1	0	C8A	57105895	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.907000	0.04067	-0.910000	0.03847	-1.364000	0.01208	GCA		0.468	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121115895	121115895	+	lincRNA	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:121115895G>A	ENST00000437515.1	-	0	329					NR_104189.1																						ACTAAAGGAGGCGGAGAAGCA	0.547																																						uc001eis.2																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(61-63)Gcg>Acg		Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 2, mRNA.																																						23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:121115895G>A																													1.37:g.121115895G>A							p.A21T	NM_001042758	NP_001036223	O75044	FNBP2_HUMAN			1	129	+	Breast(84;0.137)		184						Missense_Mutation	SNP	ENST00000437515.1	37	c.61G>A																																																																																					0.547	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2		
PRCC	5546	broad.mit.edu	37	1	156764463	156764463	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:156764463C>T	ENST00000271526.4	+	5	1458	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	PRCC_ENST00000353233.3_Missense_Mutation_p.R364W	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	396					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGTTTAAGCGGCTGCAGGG	0.478			T	TFE3	papillary renal																																	uc001fqa.3				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1186-1188)Cgg>Tgg		Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.							46.0	50.0	48.0					1																	156764463		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156764463C>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1186C>T	1.37:g.156764463C>T	ENSP00000271526:p.Arg396Trp						p.R396W	NM_005973	NP_005964	Q92733	PRCC_HUMAN			4	1476	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		396					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.1186C>T	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450292	0.63290	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	T;T;T	0.49432	0.78;0.78;0.78	4.7	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.65573	0.875;0.936	T	0.49390	-0.8945	10	0.72032	D	0.01	-8.4277	11.7919	0.52073	0.0:0.9133:0.0:0.0867	.	364;396	A6NG79;Q92733	.;PRCC_HUMAN	W	396;364;372;103	ENSP00000271526:R396W;ENSP00000339300:R364W;ENSP00000434762:R103W	ENSP00000271526:R396W	R	+	1	2	PRCC	155031087	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.232000	0.51302	1.203000	0.43233	0.563000	0.77884	CGG		0.478	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973	
CACNA1E	777	broad.mit.edu	37	1	181689358	181689358	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:181689358C>T	ENST00000367573.2	+	14	1768	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R541W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R541W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R590W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R590W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R197W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R590W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	590					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R590W(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCTTCCCTACGGAATTTGGT	0.478																																						uc009wxt.3																			2	Substitution - Missense(2)	p.R590W(4)	NS(1)|haematopoietic_and_lymphoid_tissue(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1768-1770)Cgg>Tgg		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							230.0	214.0	219.0					1																	181689358		2006	4164	6170	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181689358C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1768C>T	1.37:g.181689358C>T	ENSP00000356545:p.Arg590Trp					CACNA1E_uc001gow.3_Missense_Mutation_p.R590W|CACNA1E_uc009wxs.3_Missense_Mutation_p.R590W	p.R590W	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			13	1963	+			590					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1768C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995927	0.74703	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	5.15	5.15	0.70609	.	0.097627	0.64402	D	0.000002	D	0.99453	0.9806	H	0.97852	4.09	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98237	1.0486	10	0.87932	D	0	.	13.2677	0.60144	0.2005:0.7994:0.0:0.0	.	590;590	Q15878-2;Q15878-3	.;.	W	590;590;541;541;197;590;590	ENSP00000356542:R590W;ENSP00000434814:R590W;ENSP00000350183:R541W;ENSP00000351101:R541W;ENSP00000356539:R197W;ENSP00000353222:R590W;ENSP00000356545:R590W	ENSP00000350183:R541W	R	+	1	2	CACNA1E	179955981	0.988000	0.35896	0.953000	0.39169	0.962000	0.63368	2.256000	0.43231	2.391000	0.81399	0.563000	0.77884	CGG		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
PROX1	5629	broad.mit.edu	37	1	214170642	214170642	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:214170642A>G	ENST00000366958.4	+	2	1372	c.764A>G	c.(763-765)gAa>gGa	p.E255G	PROX1_ENST00000435016.1_Missense_Mutation_p.E255G|PROX1_ENST00000261454.4_Missense_Mutation_p.E255G|PROX1_ENST00000498508.2_Missense_Mutation_p.E255G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	255					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCTGCAGGAAAAGTTCTAC	0.532																																						uc001hkh.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(763-765)gAa>gGa		Homo sapiens prospero homeobox 1 (PROX1), mRNA.							47.0	48.0	48.0					1																	214170642		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170642A>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.764A>G	1.37:g.214170642A>G	ENSP00000355925:p.Glu255Gly					PROX1_uc001hkg.1_Missense_Mutation_p.E255G	p.E255G	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	1	1036	+			255					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.764A>G	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402352	0.62288	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.43245	-0.9403	10	0.56958	D	0.05	-5.0095	16.05	0.80749	1.0:0.0:0.0:0.0	.	255	Q92786	PROX1_HUMAN	G	255	ENSP00000420283:E255G;ENSP00000355925:E255G;ENSP00000400694:E255G;ENSP00000261454:E255G	ENSP00000261454:E255G	E	+	2	0	PROX1	212237265	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	GAA		0.532	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0											c.(523-525)aAt>aGt		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							4	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
SH2D4B	387694	broad.mit.edu	37	10	82330026	82330026	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:82330026G>T	ENST00000470604.2	+	2	298	c.298G>T	c.(298-300)Gca>Tca	p.A100S	SH2D4B_ENST00000313455.4_Missense_Mutation_p.A52S|SH2D4B_ENST00000339284.2_Missense_Mutation_p.A101S			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	100	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGAGCTGATTGCAGAGAGGGC	0.602																																						uc001kck.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13						c.(301-303)Gca>Tca		Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.							80.0	83.0	82.0					10																	82330026		2203	4300	6503	SO:0001583	missense	387694							g.chr10:82330026G>T		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.298G>T	10.37:g.82330026G>T	ENSP00000417953:p.Ala100Ser					SH2D4B_uc001kcl.1_Missense_Mutation_p.A52S	p.A101S	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		1	731	+			100			Glu-rich.		Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37	c.301G>T		.	.	.	.	.	.	.	.	.	.	G	15.93	2.979261	0.53827	.	.	ENSG00000178217	ENST00000339284;ENST00000372147;ENST00000470604;ENST00000313455	T;T;T	0.17528	2.27;2.27;2.27	5.57	4.63	0.57726	.	0.229956	0.36703	N	0.002460	T	0.23133	0.0559	M	0.73962	2.25	0.33408	D	0.578269	B;B	0.22414	0.069;0.005	B;B	0.28139	0.086;0.017	T	0.22417	-1.0217	10	0.52906	T	0.07	-3.8708	10.2636	0.43441	0.1033:0.0:0.8967:0.0	.	52;101	Q5SQS7-3;Q5SQS7-2	.;.	S	101;100;100;52	ENSP00000345295:A101S;ENSP00000417953:A100S;ENSP00000314242:A52S	ENSP00000314242:A52S	A	+	1	0	SH2D4B	82320006	0.994000	0.37717	0.546000	0.28166	0.689000	0.40095	3.902000	0.56310	1.244000	0.43870	0.563000	0.77884	GCA		0.602	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984	
FAM178A	55719	broad.mit.edu	37	10	102710503	102710503	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:102710503G>A	ENST00000238961.4	+	17	3865	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	FAM178A_ENST00000370269.3_Missense_Mutation_p.G1108E	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1108						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TTTTCTTCTGGACAACGGGTA	0.353																																						uc001krs.3																			0											c.(3322-3324)gGa>gAa		Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.							253.0	207.0	223.0					10																	102710503		2203	4299	6502	SO:0001583	missense	55719							g.chr10:102710503G>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3323G>A	10.37:g.102710503G>A	ENSP00000238961:p.Gly1108Glu					FAM178A_uc001krt.4_Missense_Mutation_p.G1108E	p.G1108E	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN			16	3865	+			1108					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.3323G>A	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286899	0.59867	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.27890	1.65;1.64	5.53	3.65	0.41850	.	0.501013	0.21252	N	0.077635	T	0.21103	0.0508	N	0.22421	0.69	0.30985	N	0.722059	P;P	0.46859	0.885;0.885	P;P	0.47981	0.486;0.563	T	0.02126	-1.1209	10	0.08179	T	0.78	-15.9886	8.1814	0.31313	0.1588:0.0:0.8412:0.0	.	1108;1108	Q8IX21;B1AL17	F178A_HUMAN;.	E	1108	ENSP00000238961:G1108E;ENSP00000359292:G1108E	ENSP00000238961:G1108E	G	+	2	0	FAM178A	102700493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.206000	0.42779	2.601000	0.87937	0.650000	0.86243	GGA		0.353	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
TRIM8	81603	broad.mit.edu	37	10	104404874	104404874	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:104404874G>A	ENST00000302424.7	+	1	622	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	167					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCCAGTACTGCTGCTACTAC	0.667																																						uc001kvz.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(499-501)tGc>tAc		Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.							13.0	15.0	14.0					10																	104404874		1632	3236	4868	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104404874G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.500G>A	10.37:g.104404874G>A	ENSP00000302120:p.Cys167Tyr						p.C167Y	NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	0	623	+		Colorectal(252;0.122)	167					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.500G>A	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489648	0.84962	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	D	0.94966	-3.57	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.98036	0.9353	M	0.93150	3.385	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99364	1.0918	10	0.87932	D	0	.	18.2954	0.90145	0.0:0.0:1.0:0.0	.	167	Q9BZR9	TRIM8_HUMAN	Y	167	ENSP00000302120:C167Y	ENSP00000302120:C167Y	C	+	2	0	TRIM8	104394864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.305000	0.96197	2.320000	0.78422	0.561000	0.74099	TGC		0.667	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912	
NRAP	4892	broad.mit.edu	37	10	115388695	115388695	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:115388695G>A	ENST00000359988.3	-	20	2370	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	NRAP_ENST00000369360.3_Missense_Mutation_p.A682V|NRAP_ENST00000369358.4_Missense_Mutation_p.A717V|NRAP_ENST00000360478.3_Missense_Mutation_p.A674V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCTGTCCAGCCTTCTTGGC	0.547																																						uc001lal.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2125-2127)gCt>gTt		Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.							127.0	112.0	117.0					10																	115388695		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115388695G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2126C>T	10.37:g.115388695G>A	ENSP00000353078:p.Ala709Val					NRAP_uc009xyb.3_Missense_Mutation_p.A20V|NRAP_uc001laj.3_Missense_Mutation_p.A709V|NRAP_uc001lak.3_Missense_Mutation_p.A674V	p.A709V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	19	2290	-		Colorectal(252;0.0233)|Breast(234;0.188)	709						Missense_Mutation	SNP	ENST00000359988.3	37	c.2126C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904425	0.72868	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.91038	3.17	0.54753	D	0.999985	D;P;P;P	0.76494	0.999;0.855;0.911;0.855	D;P;P;P	0.87578	0.998;0.573;0.821;0.667	T	0.77316	-0.2633	10	0.32370	T	0.25	.	18.4473	0.90690	0.0:0.0:1.0:0.0	.	389;709;674;709	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	V	717;682;709;674;389	ENSP00000358365:A717V;ENSP00000358367:A682V;ENSP00000353078:A709V;ENSP00000353666:A674V	ENSP00000353078:A709V	A	-	2	0	NRAP	115378685	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	6.689000	0.74562	2.451000	0.82905	0.313000	0.20887	GCT		0.547	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
GFRA1	2674	broad.mit.edu	37	10	117884937	117884937	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:117884937G>A	ENST00000355422.6	-	6	1115	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	GFRA1_ENST00000544592.1_Missense_Mutation_p.R68C|GFRA1_ENST00000369236.1_Missense_Mutation_p.R184C|GFRA1_ENST00000439649.3_Missense_Mutation_p.R184C	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	189					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACTTGCGGCGGTTGCAGACA	0.607																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(565-567)Cgc>Tgc		Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.							78.0	65.0	69.0					10																	117884937		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884937G>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.565C>T	10.37:g.117884937G>A	ENSP00000347591:p.Arg189Cys					GFRA1_uc001lci.3_Missense_Mutation_p.R184C|GFRA1_uc009xyr.3_Missense_Mutation_p.R184C	p.R189C	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	1263	-		Lung NSC(174;0.21)	189					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.565C>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685557	0.68157	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.65916	-0.18;-0.18	5.85	4.87	0.63330	GDNF/GAS1 (2);	0.102195	0.64402	D	0.000005	T	0.80999	0.4732	M	0.86420	2.815	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.914	D	0.84234	0.0468	10	0.87932	D	0	-27.3413	16.0848	0.81038	0.0:0.0:0.8215:0.1785	.	189;184	P56159;P56159-2	GFRA1_HUMAN;.	C	189;184;184;68;184	ENSP00000358239:R184C;ENSP00000442179:R68C	ENSP00000347591:R184C	R	-	1	0	GFRA1	117874927	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	3.142000	0.50601	2.771000	0.95319	0.561000	0.74099	CGC		0.607	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793	
MKI67	4288	broad.mit.edu	37	10	129905312	129905312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:129905312G>A	ENST00000368654.3	-	13	5167	c.4792C>T	c.(4792-4794)Cga>Tga	p.R1598*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.R1238*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1598	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGTGACCTCGTGTCTGGAAG	0.488																																						uc001lke.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4792-4794)Cga>Tga		Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.							187.0	182.0	184.0					10																	129905312		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905312G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4792C>T	10.37:g.129905312G>A	ENSP00000357643:p.Arg1598*					MKI67_uc001lkf.3_Nonsense_Mutation_p.R1238*|MKI67_uc009yav.1_Nonsense_Mutation_p.R1173*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R748*	p.R1598*	NM_002417	NP_002408	P46013	KI67_HUMAN			12	4987	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1598			16 X 122 AA approximate repeats.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.4792C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	46	12.088975	0.99635	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.07	3.07	0.35406	.	0.251885	0.26349	N	0.024891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.1284	0.59368	0.0:0.0:1.0:0.0	.	.	.	.	X	1598;1238;1597	.	ENSP00000357642:R1238X	R	-	1	2	MKI67	129795302	0.226000	0.23696	0.136000	0.22124	0.054000	0.15201	2.307000	0.43682	2.051000	0.60960	0.563000	0.77884	CGA		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MRGPRX4	117196	broad.mit.edu	37	11	18195645	18195645	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:18195645G>A	ENST00000314254.3	+	1	1262	c.842G>A	c.(841-843)cGt>cAt	p.R281H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTAGGCAGCGTCAAAATAGG	0.498																																						uc001mnv.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(841-843)cGt>cAt		Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.							88.0	89.0	89.0					11																	18195645		2199	4290	6489	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195645G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.842G>A	11.37:g.18195645G>A	ENSP00000314042:p.Arg281His						p.R281H	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			0	1262	+			281					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.842G>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	7.726	0.698303	0.15106	.	.	ENSG00000179817	ENST00000314254	T	0.39592	1.07	2.85	-5.7	0.02421	.	0.934257	0.08943	N	0.871317	T	0.35158	0.0922	M	0.79011	2.435	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.21724	-1.0237	10	0.21540	T	0.41	.	5.1213	0.14862	0.3667:0.0:0.4739:0.1594	.	281	Q96LA9	MRGX4_HUMAN	H	281	ENSP00000314042:R281H	ENSP00000314042:R281H	R	+	2	0	MRGPRX4	18152221	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.029000	0.03585	-2.234000	0.00715	-1.179000	0.01719	CGT		0.498	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032	
OR5D18	219438	broad.mit.edu	37	11	55587380	55587380	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:55587380C>A	ENST00000333976.4	+	1	295	c.275C>A	c.(274-276)aCc>aAc	p.T92N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AAAGACAGAACCATTTCATTT	0.418																																						uc010rin.2																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(274-276)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							226.0	221.0	223.0					11																	55587380		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587380C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.275C>A	11.37:g.55587380C>A	ENSP00000335025:p.Thr92Asn						p.T92N	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	275	+		all_epithelial(135;0.208)	92					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.275C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	11.17	1.558863	0.27827	.	.	ENSG00000186119	ENST00000333976	T	0.01804	4.63	4.94	-2.79	0.05841	GPCR, rhodopsin-like superfamily (1);	1.081260	0.07276	N	0.869973	T	0.02888	0.0086	M	0.67700	2.07	0.09310	N	1	B	0.15719	0.014	B	0.20767	0.031	T	0.43572	-0.9383	10	0.59425	D	0.04	-9.886	7.7359	0.28815	0.1118:0.3845:0.4365:0.0672	.	92	Q8NGL1	OR5DI_HUMAN	N	92	ENSP00000335025:T92N	ENSP00000335025:T92N	T	+	2	0	OR5D18	55343956	0.000000	0.05858	0.945000	0.38365	0.864000	0.49448	-4.937000	0.00168	-0.284000	0.09102	-0.162000	0.13425	ACC		0.418	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
LRRC55	219527	broad.mit.edu	37	11	56949947	56949947	+	Missense_Mutation	SNP	C	C	T	rs200453430		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:56949947C>T	ENST00000497933.1	+	1	727	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	164					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCCCTGGCTGCGGAGGGTGCA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18625	0.0		0.001	False		,,,				2504	0.0					uc001njl.2																			0		p.R194R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(580-582)Cgg>Tgg		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							46.0	46.0	46.0					11																	56949947		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949947C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.580C>T	11.37:g.56949947C>T	ENSP00000419542:p.Arg194Trp						p.R194W	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	727	+			164					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.580C>T	CCDS31539.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.49	3.137128	0.56936	.	.	ENSG00000183908	ENST00000497933	T	0.02579	4.24	5.91	3.87	0.44632	.	0.000000	0.56097	D	0.000029	T	0.10294	0.0252	L	0.53780	1.695	0.35594	D	0.807339	D	0.55172	0.97	D	0.63488	0.915	T	0.02743	-1.1116	10	0.59425	D	0.04	.	14.6917	0.69091	0.212:0.788:0.0:0.0	.	164	Q6ZSA7	LRC55_HUMAN	W	194	ENSP00000419542:R194W	ENSP00000419542:R194W	R	+	1	2	LRRC55	56706523	0.772000	0.28567	1.000000	0.80357	0.986000	0.74619	0.190000	0.17057	2.793000	0.96121	0.655000	0.94253	CGG		0.617	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210	
GLYATL2	219970	broad.mit.edu	37	11	58605817	58605817	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:58605817T>C	ENST00000287275.1	-	3	493	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.K35E	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	35						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTTTTATCTTTTATGTTGAAA	0.423																																						uc001nnd.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(103-105)Aaa>Gaa		Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	Glycine(DB00145)						97.0	95.0	96.0					11																	58605817		1925	4162	6087	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58605817T>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.103A>G	11.37:g.58605817T>C	ENSP00000287275:p.Lys35Glu					GLYATL2_uc009ymq.3_Missense_Mutation_p.K35E	p.K35E	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			2	234	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	35					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.103A>G	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041254	0.35989	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.14144	2.53;2.53	3.57	3.57	0.40892	Glycine N-acyltransferase, N-terminal (1);	0.453332	0.16803	U	0.198881	T	0.08935	0.0221	L	0.40543	1.245	0.09310	N	1	B	0.31485	0.325	B	0.25140	0.058	T	0.26849	-1.0091	10	0.07990	T	0.79	.	8.6828	0.34218	0.0:0.0:0.0:1.0	.	35	Q8WU03	GLYL2_HUMAN	E	35	ENSP00000287275:K35E;ENSP00000434277:K35E	ENSP00000287275:K35E	K	-	1	0	GLYATL2	58362393	0.004000	0.15560	0.002000	0.10522	0.436000	0.31835	1.217000	0.32455	1.290000	0.44636	0.445000	0.29226	AAA		0.423	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016	
DDIAS	220042	broad.mit.edu	37	11	82643154	82643154	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:82643154T>A	ENST00000533655.1	+	6	986	c.774T>A	c.(772-774)ttT>ttA	p.F258L	C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.F258L|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		258					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATGATGATTTTTCAGCTTCAG	0.413																																						uc001ozt.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(772-774)ttT>ttA		Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.							80.0	82.0	82.0					11																	82643154		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643154T>A																												ENST00000533655.1:c.774T>A	11.37:g.82643154T>A	ENSP00000435421:p.Phe258Leu					C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	p.F258L	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			5	1018	+			258					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.774T>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	T	7.393	0.631088	0.14322	.	.	ENSG00000165490	ENST00000430323;ENST00000533655	T;T	0.18502	2.21;2.21	5.8	-1.26	0.09376	.	0.722444	0.13932	N	0.352831	T	0.14787	0.0357	M	0.61703	1.905	0.09310	N	0.999997	B	0.17465	0.022	B	0.14578	0.011	T	0.26360	-1.0105	9	.	.	.	.	6.7666	0.23571	0.0:0.1439:0.356:0.5001	.	258	Q8IXT1	NOXIN_HUMAN	L	258	ENSP00000414687:F258L;ENSP00000435421:F258L	.	F	+	3	2	C11orf82	82320802	0.002000	0.14202	0.841000	0.33234	0.050000	0.14768	0.160000	0.16462	0.087000	0.17167	-0.460000	0.05396	TTT		0.413	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1		
DDX10	1662	broad.mit.edu	37	11	108788719	108788719	+	Silent	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:108788719T>C	ENST00000322536.3	+	17	2553	c.2424T>C	c.(2422-2424)gaT>gaC	p.D808D	DDX10_ENST00000526794.1_Silent_p.D808D	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	808					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGATTCAGATAGTGAAGATA	0.343			T	NUP98	AML*																																	uc001pkm.3				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2422-2424)gaT>gaC		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.							95.0	101.0	99.0					11																	108788719		2201	4298	6499	SO:0001819	synonymous_variant	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788719T>C	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2424T>C	11.37:g.108788719T>C						DDX10_uc001pkl.1_Silent_p.D808D	p.D808D	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	16	2489	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	808					B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	c.2424T>C	CCDS8342.1																																																																																				0.343	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	
NXPE4	54827	broad.mit.edu	37	11	114453240	114453240	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:114453240G>A	ENST00000375478.3	-	3	780	c.600C>T	c.(598-600)gaC>gaT	p.D200D	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	200						extracellular vesicular exosome (GO:0070062)											AGATCACCCTGTCATAGCCTT	0.532																																						uc001ppc.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(598-600)gaC>gaT		Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.							77.0	83.0	81.0					11																	114453240		2199	4295	6494	SO:0001819	synonymous_variant	54827					extracellular region		g.chr11:114453240G>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.600C>T	11.37:g.114453240G>A						FAM55D_uc001ppd.3_Intron	p.D200D	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	2	781	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	200					Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	c.600C>T	CCDS41718.1																																																																																				0.532	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
ETS1	2113	broad.mit.edu	37	11	128354828	128354828	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:128354828G>A	ENST00000319397.6	-	5	929	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ETS1_ENST00000531611.1_Missense_Mutation_p.S207L|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.S251L|ETS1_ENST00000345075.4_Missense_Mutation_p.S207L|ETS1_ENST00000526145.2_Missense_Mutation_p.S207L	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	207	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S207L(1)|p.S251L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGAATGACCGAGGGGTAGTC	0.522																																						uc010sbs.1																			2	Substitution - Missense(2)	p.S207L(2)|p.S251L(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(619-621)tCg>tTg		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.							144.0	129.0	134.0					11																	128354828		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128354828G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.620C>T	11.37:g.128354828G>A	ENSP00000324578:p.Ser207Leu					ETS1_uc001qej.2_Missense_Mutation_p.S251L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S207L	p.S207L	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	4	936	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	207					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.620C>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765361	0.31228	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.47177	3.07;2.69;0.85;2.72;3.07	5.67	5.67	0.87782	.	0.505280	0.19302	N	0.117612	T	0.31167	0.0788	N	0.12182	0.205	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.08086	-1.0739	10	0.39692	T	0.17	.	13.0358	0.58870	0.0736:0.0:0.9264:0.0	.	207;207;251	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	L	207;251;207;207;207	ENSP00000340485:S207L;ENSP00000376436:S251L;ENSP00000435666:S207L;ENSP00000324578:S207L;ENSP00000433500:S207L	ENSP00000324578:S207L	S	-	2	0	ETS1	127860038	0.998000	0.40836	0.943000	0.38184	0.742000	0.42306	3.738000	0.55067	2.673000	0.90976	0.561000	0.74099	TCG		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238	
GDF3	9573	broad.mit.edu	37	12	7848193	7848193	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:7848193G>A	ENST00000329913.3	-	1	179	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	44					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCACAGGTTGGAACTTCTGGG	0.498																																						uc001qte.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(130-132)ttC>ttT		Homo sapiens growth differentiation factor 3 (GDF3), mRNA.							48.0	49.0	48.0					12																	7848193		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7848193G>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.132C>T	12.37:g.7848193G>A							p.F44F	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			0	168	-			44					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.132C>T	CCDS8581.1																																																																																				0.498	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
GLI1	2735	broad.mit.edu	37	12	57861990	57861990	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:57861990G>C	ENST00000228682.2	+	10	1382	c.1291G>C	c.(1291-1293)Gtg>Ctg	p.V431L	GLI1_ENST00000546141.1_Missense_Mutation_p.V390L|GLI1_ENST00000543426.1_Missense_Mutation_p.V303L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	431					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGACTGACTGTGCCAGAGGG	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.3																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1291-1293)Gtg>Ctg		Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.							42.0	43.0	43.0					12																	57861990		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861990G>C		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1291G>C	12.37:g.57861990G>C	ENSP00000228682:p.Val431Leu					GLI1_uc021qzi.1_Missense_Mutation_p.V390L|GLI1_uc009zpq.3_Missense_Mutation_p.V303L	p.V431L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		9	1385	+			431					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1291G>C	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232555	0.39498	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.14766	2.62;2.48;2.56;2.56	4.95	4.06	0.47325	.	0.000000	0.44688	D	0.000422	T	0.13157	0.0319	L	0.38175	1.15	0.38116	D	0.93772	B	0.29378	0.243	B	0.33690	0.168	T	0.11867	-1.0570	10	0.34782	T	0.22	.	12.5774	0.56371	0.0829:0.0:0.9171:0.0	.	431	P08151	GLI1_HUMAN	L	303;431;390;390;303	ENSP00000437607:V303L;ENSP00000228682:V431L;ENSP00000441006:V390L;ENSP00000434408:V390L	ENSP00000228682:V431L	V	+	1	0	GLI1	56148257	1.000000	0.71417	0.772000	0.31596	0.083000	0.17756	6.330000	0.72925	1.213000	0.43380	-0.140000	0.14226	GTG		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
BEST3	144453	broad.mit.edu	37	12	70091534	70091534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:70091534delA	ENST00000330891.5	-	2	271	c.45delT	c.(43-45)tttfs	p.F15fs	BEST3_ENST00000331471.4_Frame_Shift_Del_p.F15fs|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000393365.1_5'UTR	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	15					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGAAATCCAAAAAAAGTTG	0.353																																						uc001svg.3																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(43-45)tttfs		Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.							115.0	112.0	113.0					12																	70091534		1824	4090	5914	SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70091534delA	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.45delT	12.37:g.70091534delA	ENSP00000332413:p.Phe15fs					BEST3_uc001svd.2_Frame_Shift_Del_p.F15fs|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron	p.F15fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		1	272	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		15					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL	ENST00000330891.5	37	c.45delT	CCDS8992.2																																																																																				0.353	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439	
LGR5	8549	broad.mit.edu	37	12	71974190	71974190	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:71974190G>A	ENST00000266674.5	+	16	1850	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.M489I|LGR5_ENST00000536515.1_Missense_Mutation_p.M441I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	513					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATGCTGGAATGTTTCAGGCTC	0.388																																						uc001swl.3																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1537-1539)atG>atA		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.							254.0	234.0	240.0					12																	71974190		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71974190G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1539G>A	12.37:g.71974190G>A	ENSP00000266674:p.Met513Ile					LGR5_uc001swm.3_Missense_Mutation_p.M489I|LGR5_uc021rar.1_Missense_Mutation_p.M441I|LGR5_uc001swn.1_Non-coding_Transcript	p.M513I	NM_003667	NP_003658	O75473	LGR5_HUMAN			15	1587	+			513					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1539G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763957	0.31228	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.21361	2.01;2.01;2.01	5.38	0.357	0.16079	.	0.490862	0.20516	N	0.090799	T	0.16642	0.0400	L	0.53249	1.67	0.24767	N	0.992897	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.18650	-1.0330	10	0.33940	T	0.23	.	6.3339	0.21285	0.3412:0.1173:0.5415:0.0	.	489;513	O75473-2;O75473	.;LGR5_HUMAN	I	513;513;441;489	ENSP00000266674:M513I;ENSP00000443033:M441I;ENSP00000441035:M489I	ENSP00000266674:M513I	M	+	3	0	LGR5	70260457	1.000000	0.71417	0.061000	0.19648	0.858000	0.48976	1.752000	0.38349	-0.134000	0.11516	-0.142000	0.14014	ATG		0.388	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667	
HECTD4	283450	broad.mit.edu	37	12	112622897	112622897	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:112622897C>T	ENST00000430131.2	-	60	9752	c.8607G>A	c.(8605-8607)tcG>tcA	p.S2869S	HECTD4_ENST00000550722.1_Silent_p.S3145S|HECTD4_ENST00000377560.5_Silent_p.S3119S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2869	Ser-rich.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGAGGAGGACGAGTCACTGA	0.592																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(9469-9471)tcG>tcA		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							24.0	26.0	26.0					12																	112622897		2075	4181	6256	SO:0001819	synonymous_variant	283450							g.chr12:112622897C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8607G>A	12.37:g.112622897C>T							p.S3157S	NM_001109662	NP_001103132					60	9867	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.9471G>A																																																																																					0.592	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
TUBA3C	7278	broad.mit.edu	37	13	19752399	19752399	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:19752399C>T	ENST00000400113.3	-	3	466	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	121					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTTGCGGATCCGGTCCAGGAC	0.522																																						uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(361-363)cGg>cAg		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							207.0	183.0	191.0					13																	19752399		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752399C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.362G>A	13.37:g.19752399C>T	ENSP00000382982:p.Arg121Gln						p.R121Q	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	467	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	121					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.362G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	12.28	1.890100	0.33348	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69561	-0.41	1.53	1.53	0.23141	.	0.000000	0.45126	U	0.000391	T	0.71126	0.3303	.	.	.	0.39289	D	0.964697	.	.	.	.	.	.	T	0.74976	-0.3480	7	0.87932	D	0	.	9.0464	0.36349	0.0:1.0:0.0:0.0	.	.	.	.	Q	121	ENSP00000382982:R121Q	ENSP00000354037:R121Q	R	-	2	0	TUBA3C	18650399	0.872000	0.30054	0.999000	0.59377	0.982000	0.71751	4.682000	0.61671	1.161000	0.42604	0.423000	0.28283	CGG		0.522	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
FLT1	2321	broad.mit.edu	37	13	28919630	28919630	+	Silent	SNP	C	C	T	rs142392658		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:28919630C>T	ENST00000282397.4	-	16	2558	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	769					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAAGAGAGTCGCAGCCACAC	0.398																																						uc001usb.3																			0		p.A769S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2305-2307)gcG>gcA		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)	C		0,4406		0,0,2203	61.0	61.0	61.0		2307	-9.2	0.4	13	dbSNP_134	61	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FLT1	NM_002019.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		769/1339	28919630	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919630C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2307G>A	13.37:g.28919630C>T						FLT1_uc001usa.3_5'UTR	p.A769A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	15	2592	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	769					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2307G>A	CCDS9330.1																																																																																				0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
TEP1	7011	broad.mit.edu	37	14	20871545	20871545	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20871545C>T	ENST00000262715.5	-	7	1297	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	TEP1_ENST00000556935.1_Silent_p.E311E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	419	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTCTCTGCTCTTCTCTGA	0.408																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1255-1257)gaG>gaA		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							176.0	173.0	174.0					14																	20871545		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871545C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1257G>A	14.37:g.20871545C>T						TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.E311E	p.E419E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1297	-	all_cancers(95;0.00123)	all_lung(585;0.235)	419			TROVE.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.1257G>A	CCDS9548.1																																																																																				0.408	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
OSGEP	55644	broad.mit.edu	37	14	20917163	20917163	+	Missense_Mutation	SNP	C	C	T	rs575185404		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20917163C>T	ENST00000206542.4	-	5	938	c.517G>A	c.(517-519)Gac>Aac	p.D173N	OSGEP_ENST00000554249.1_5'UTR|RP11-203M5.7_ENST00000555435.1_RNA|OSGEP_ENST00000555656.1_5'UTR|OSGEP_ENST00000556252.1_5'Flank	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GGACTTGGGTCGTTAGAAATC	0.448																																						uc001vxf.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(517-519)Gac>Aac		Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.							177.0	180.0	179.0					14																	20917163		2203	4300	6503	SO:0001583	missense	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20917163C>T	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.517G>A	14.37:g.20917163C>T	ENSP00000206542:p.Asp173Asn						p.D173N	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	4	942	-	all_cancers(95;0.00123)	all_lung(585;0.235)	173						Missense_Mutation	SNP	ENST00000206542.4	37	c.517G>A	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878113	0.72294	.	.	ENSG00000092094	ENST00000206542	T	0.40756	1.02	6.17	6.17	0.99709	Peptidase M22, glycoprotease (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.76002	2.32	0.80722	D	1	B	0.28820	0.224	B	0.33690	0.168	T	0.48581	-0.9023	10	0.52906	T	0.07	-32.2756	19.6509	0.95805	0.0:1.0:0.0:0.0	.	173	Q9NPF4	OSGEP_HUMAN	N	173	ENSP00000206542:D173N	ENSP00000206542:D173N	D	-	1	0	OSGEP	19987003	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	7.367000	0.79558	2.941000	0.99782	0.655000	0.94253	GAC		0.448	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	NM_017807	
PAPOLA	10914	broad.mit.edu	37	14	97022277	97022277	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:97022277C>G	ENST00000216277.8	+	18	1978	c.1758C>G	c.(1756-1758)agC>agG	p.S586R	PAPOLA_ENST00000392990.2_Missense_Mutation_p.S586R	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	586	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCAGTGAAAGCTCAGGGGGTA	0.398																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(1756-1758)agC>agG		Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.							79.0	81.0	80.0					14																	97022277		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97022277C>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1758C>G	14.37:g.97022277C>G	ENSP00000216277:p.Ser586Arg					PAPOLA_uc001yfr.3_Missense_Mutation_p.S585R|PAPOLA_uc010twv.2_Missense_Mutation_p.S586R|PAPOLA_uc010avp.3_Missense_Mutation_p.S336R	p.S586R	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	17	1975	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	586			Ser/Thr-rich.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1758C>G	CCDS9946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.562670|2.562670	0.45694|0.45694	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000556459|ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.084638	.|0.85682	.|D	.|0.000000	T|T	0.57198|0.57198	0.2037|0.2037	L|L	0.53249|0.53249	1.67|1.67	0.46701|0.46701	D|D	0.99916|0.99916	.|P;P;P	.|0.49783	.|0.928;0.883;0.883	.|P;B;B	.|0.45829	.|0.494;0.299;0.299	T|T	0.56135|0.56135	-0.8029|-0.8029	5|9	.|0.39692	.|T	.|0.17	.|.	13.6247|13.6247	0.62157|0.62157	0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708	.|.	.|602;602;586	.|F5H5I8;B4DYF4;P51003	.|.;.;PAPOA_HUMAN	G|R	87|586;602;586;336	.|.	.|ENSP00000216277:S586R	A|S	+|+	2|3	0|2	PAPOLA|PAPOLA	96092030|96092030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.751000|3.751000	0.55165|0.55165	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.398	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
AHNAK2	113146	broad.mit.edu	37	14	105417016	105417016	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:105417016A>T	ENST00000333244.5	-	7	4891	c.4772T>A	c.(4771-4773)cTc>cAc	p.L1591H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1591						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCCTTGAGGTCCACTTT	0.592																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4771-4773)cTc>cAc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							116.0	127.0	123.0					14																	105417016		1813	4026	5839	SO:0001583	missense	113146					nucleus		g.chr14:105417016A>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4772T>A	14.37:g.105417016A>T	ENSP00000353114:p.Leu1591His					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L1491H	p.L1591H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	4892	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1591					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4772T>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	1.938	-0.444318	0.04604	.	.	ENSG00000185567	ENST00000333244	T	0.01347	4.99	3.21	3.21	0.36854	.	.	.	.	.	T	0.06462	0.0166	M	0.82517	2.595	0.09310	N	1	D	0.71674	0.998	D	0.65684	0.937	T	0.27123	-1.0083	9	0.20046	T	0.44	-12.2055	8.5042	0.33177	1.0:0.0:0.0:0.0	.	1591	Q8IVF2	AHNK2_HUMAN	H	1591	ENSP00000353114:L1591H	ENSP00000353114:L1591H	L	-	2	0	AHNAK2	104488061	0.053000	0.20554	0.014000	0.15608	0.033000	0.12548	3.529000	0.53532	1.432000	0.47375	0.397000	0.26171	CTC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
TJP1	7082	broad.mit.edu	37	15	30012191	30012192	+	Frame_Shift_Ins	INS	-	-	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr15:30012191_30012192insT	ENST00000346128.6	-	20	3266_3267	c.2792_2793insA	c.(2791-2793)tacfs	p.Y931fs	TJP1_ENST00000545208.2_Intron|TJP1_ENST00000356107.6_Frame_Shift_Ins_p.Y931fs|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	931					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAGGCGAAAGGTAAGGGACTGG	0.386																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2791-2793)tacfs		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30012191_30012192insT		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2793dupA	15.37:g.30012192_30012192dupT	ENSP00000281537:p.Tyr931fs					TJP1_uc010azl.3_Frame_Shift_Ins_p.Y919fs|TJP1_uc001zcq.3_Intron|TJP1_uc001zcs.3_Intron	p.Y931fs	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	19	3267_3268	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	931					B4E3K1|Q2NKP3|Q4ZGJ6	Frame_Shift_Ins	INS	ENST00000346128.6	37	c.2792_2793insA	CCDS42007.1																																																																																				0.386	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						uc002lgy.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(568-573)cttcct>ctt		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.																																				SO:0001651	inframe_deletion	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	p.P194del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			8	853_855	+			194			WW 1.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.570_572delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
DAPK3	1613	broad.mit.edu	37	19	3959627	3959627	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:3959627C>T	ENST00000545797.2	-	9	1080	c.837G>A	c.(835-837)cgG>cgA	p.R279R	DAPK3_ENST00000301264.3_Silent_p.R279R|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	279					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCCGCCGCCGGATCGCCT	0.687																																						uc002lzc.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(835-837)cgG>cgA		Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.							13.0	12.0	12.0					19																	3959627		1931	3812	5743	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3959627C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.837G>A	19.37:g.3959627C>T						DAPK3_uc002lzb.1_Silent_p.R16R|DAPK3_uc002lzd.1_Silent_p.R279R	p.R279R	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	7	931	-		Hepatocellular(1079;0.137)	279					A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.837G>A	CCDS12116.1																																																																																				0.687	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348	
UBXN6	80700	broad.mit.edu	37	19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)aagfs	p.K30fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667																																						uc002man.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(88-90)aagfs		Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.							102.0	115.0	111.0					19																	4454085		2203	4300	6503	SO:0001589	frameshift_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454085delT	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.89delA	19.37:g.4454085delT	ENSP00000301281:p.Lys30fs					UBXN6_uc002mam.2_5'UTR	p.K30fs	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN			1	186	-			30					D6W626|Q96AH1|Q96IK9|Q9BZV0	Frame_Shift_Del	DEL	ENST00000301281.6	37	c.89delA	CCDS12129.1																																																																																				0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241	
KHSRP	8570	broad.mit.edu	37	19	6416419	6416419	+	Splice_Site	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:6416419C>A	ENST00000398148.3	-	15	1581		c.e15-1		MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AGAGAGGACCCTAGAAGGAAG	0.637																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.e15-1		Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.							19.0	21.0	20.0					19																	6416419		1862	4097	5959	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416419C>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1489-1G>T	19.37:g.6416419C>A							p.G497_splice	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			15	1599	-			497					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	c.1489_splice	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036004	0.75617	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7632	0.88470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6367419	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	4.152000	0.58111	2.482000	0.83794	0.655000	0.94253	.		0.637	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Intron
TSPAN16	26526	broad.mit.edu	37	19	11417292	11417292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:11417292G>A	ENST00000316737.1	+	5	613	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	TSPAN16_ENST00000592955.1_Missense_Mutation_p.G130R|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000590327.1_Missense_Mutation_p.G155R	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	155						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAAGTGCTGTGGGGTGAATAA	0.438																																						uc002mqv.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(463-465)Ggg>Agg		Homo sapiens tetraspanin 16 (TSPAN16), mRNA.							102.0	93.0	96.0					19																	11417292		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11417292G>A	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.463G>A	19.37:g.11417292G>A	ENSP00000319486:p.Gly155Arg					TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	p.G155R	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			4	613	+			155					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.463G>A	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157009	0.57259	.	.	ENSG00000130167	ENST00000316737	D	0.99201	-5.55	3.25	3.25	0.37280	Tetraspanin, EC2 domain (1);	0.562941	0.14991	N	0.286666	D	0.99165	0.9711	M	0.84511	2.7	0.28899	N	0.8934	D	0.89917	1.0	D	0.97110	1.0	D	0.95848	0.8872	10	0.87932	D	0	-10.5796	10.2667	0.43460	0.0:0.0:1.0:0.0	.	155	Q9UKR8	TSN16_HUMAN	R	155	ENSP00000319486:G155R	ENSP00000319486:G155R	G	+	1	0	TSPAN16	11278292	0.951000	0.32395	0.968000	0.41197	0.867000	0.49689	1.746000	0.38288	2.110000	0.64415	0.561000	0.74099	GGG		0.438	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466	
NOTCH3	4854	broad.mit.edu	37	19	15272328	15272328	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:15272328G>A	ENST00000263388.2	-	33	6186	c.6111C>T	c.(6109-6111)caC>caT	p.H2037H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2037					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCCAGGCCGTGGGGACCGG	0.706																																						uc002nan.3																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6109-6111)caC>caT		Homo sapiens notch 3 (NOTCH3), mRNA.							10.0	13.0	12.0					19																	15272328		2183	4280	6463	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15272328G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6111C>T	19.37:g.15272328G>A							p.H2037H	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		32	6187	-			2037					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.6111C>T	CCDS12326.1																																																																																				0.706	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
TSKS	60385	broad.mit.edu	37	19	50251361	50251361	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:50251361C>T	ENST00000246801.3	-	4	642	c.560G>A	c.(559-561)gGg>gAg	p.G187E	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	187					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AATGCAGTACCCCTCCAACTC	0.567																																						uc002ppm.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(559-561)gGg>gAg		Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.							203.0	170.0	181.0					19																	50251361		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50251361C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.560G>A	19.37:g.50251361C>T	ENSP00000246801:p.Gly187Glu						p.G187E	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	3	571	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	187					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.560G>A	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870245	0.51588	.	.	ENSG00000126467	ENST00000246801	T	0.28895	1.59	5.6	5.6	0.85130	.	0.000000	0.53938	D	0.000042	T	0.32194	0.0821	L	0.29908	0.895	0.80722	D	1	P	0.46142	0.873	P	0.52710	0.707	T	0.01834	-1.1264	10	0.25751	T	0.34	-31.703	10.6044	0.45386	0.0:0.9122:0.0:0.0878	.	187	Q9UJT2	TSKS_HUMAN	E	187	ENSP00000246801:G187E	ENSP00000246801:G187E	G	-	2	0	TSKS	54943173	0.982000	0.34865	0.993000	0.49108	0.963000	0.63663	2.445000	0.44899	2.642000	0.89623	0.462000	0.41574	GGG		0.567	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
HEATR5B	54497	broad.mit.edu	37	2	37215846	37215846	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:37215846C>T	ENST00000233099.5	-	35	5949	c.5854G>A	c.(5854-5856)Gtt>Att	p.V1952I	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V1863I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1952						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCTTCTTGAACCGCTAAAAGC	0.348																																						uc002rpp.1																			0		p.A1951A(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5854-5856)Gtt>Att		Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.							75.0	74.0	75.0					2																	37215846		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37215846C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5854G>A	2.37:g.37215846C>T	ENSP00000233099:p.Val1952Ile					HEATR5B_uc010ezy.1_Missense_Mutation_p.V447I	p.V1952I	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			34	5950	-		all_hematologic(82;0.21)	1952					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.5854G>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567974	0.65651	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	T;T	0.46819	0.86;0.86	5.27	4.39	0.52855	Armadillo-like helical (1);Armadillo-type fold (1);	0.060865	0.64402	N	0.000003	T	0.37705	0.1013	L	0.41236	1.265	0.26765	N	0.96993	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.004	T	0.18053	-1.0349	10	0.14252	T	0.57	-16.0637	14.0986	0.65039	0.0:0.927:0.0:0.073	.	1952;1952	Q9P2D3;B9EK47	HTR5B_HUMAN;.	I	53;1952;1863	ENSP00000233099:V1952I;ENSP00000346531:V1863I	ENSP00000233099:V1952I	V	-	1	0	HEATR5B	37069350	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.796000	0.55507	1.343000	0.45638	0.484000	0.47621	GTT		0.348	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
RGPD4	285190	broad.mit.edu	37	2	108443529	108443529	+	Silent	SNP	G	G	A	rs544475701	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:108443529G>A	ENST00000408999.3	+	1	137	c.60G>A	c.(58-60)ccG>ccA	p.P20P	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Silent_p.P20P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	20					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCTCCGCCCCGTCGCCTCGAA	0.711																																						uc010ywk.2																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(58-60)ccG>ccA		Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.							41.0	59.0	54.0					2																	108443529		692	1590	2282	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108443529G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.60G>A	2.37:g.108443529G>A						LOC729121_uc010ywj.1_5'Flank|LOC729121_uc002tdt.2_5'Flank	p.P20P	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			0	142	+			20					B9A029	Silent	SNP	ENST00000408999.3	37	c.60G>A	CCDS46381.1																																																																																				0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581	
IL1RN	3557	broad.mit.edu	37	2	113890404	113890404	+	Missense_Mutation	SNP	G	G	A	rs188868709		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:113890404G>A	ENST00000409930.3	+	4	554	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	IL1RN_ENST00000361779.3_Missense_Mutation_p.E130K|IL1RN_ENST00000409052.1_Missense_Mutation_p.E130K|IL1RN_ENST00000354115.2_Missense_Mutation_p.E146K|IL1RN_ENST00000259206.5_Missense_Mutation_p.E167K	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	164					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	TATGCCTGACGAAGGCGTCAT	0.592									Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc002tjb.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(490-492)Gaa>Aaa		Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	Anakinra(DB00026)						119.0	106.0	110.0					2																	113890404		2203	4300	6503	SO:0001583	missense	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113890404G>A	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.490G>A	2.37:g.113890404G>A	ENSP00000387173:p.Glu164Lys					IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.E167K|IL1RN_uc002tiy.3_Missense_Mutation_p.E130K|IL1RN_uc002tja.3_Missense_Mutation_p.E146K	p.E164K	NM_173842	NP_776215	P18510	IL1RA_HUMAN			3	554	+			164					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	c.490G>A	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792947	0.31685	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.48	2.72	0.32119	.	1.221100	0.05311	N	0.524758	T	0.08044	0.0201	N	0.21097	0.63	0.09310	N	1	B;B;B	0.17667	0.007;0.008;0.023	B;B;B	0.20384	0.006;0.009;0.029	T	0.45041	-0.9288	10	0.26408	T	0.33	-12.2884	11.0565	0.47922	0.1666:0.0:0.8334:0.0	.	164;146;167	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	K	130;130;167;146;164	ENSP00000387210:E130K;ENSP00000354816:E130K;ENSP00000259206:E167K;ENSP00000329072:E146K;ENSP00000387173:E164K	ENSP00000259206:E167K	E	+	1	0	IL1RN	113606875	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.551000	0.23361	0.388000	0.25054	-0.940000	0.02684	GAA		0.592	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841	
ALPPL2	251	broad.mit.edu	37	2	233274348	233274348	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:233274348C>T	ENST00000295453.3	+	11	1417	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	455					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CAGGCGAGGACGTGGCGGTGT	0.662																																						uc002vss.4																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1363-1365)gaC>gaT		Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	Amifostine(DB01143)|Levamisole(DB00848)						27.0	29.0	28.0					2																	233274348		2196	4300	6496	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274348C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1365C>T	2.37:g.233274348C>T							p.D455D	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1418	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	455					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1365C>T	CCDS2491.1																																																																																				0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T	rs199829982		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1828-1830)ggC>ggT		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.		C		1,4405		0,1,2202	29.0	31.0	30.0		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	p.G610G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2262	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
CNBD2	140894	broad.mit.edu	37	20	34560629	34560629	+	Missense_Mutation	SNP	C	C	T	rs150690141	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:34560629C>T	ENST00000373973.3	+	2	303	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	CNBD2_ENST00000538900.1_Missense_Mutation_p.R44W|CNBD2_ENST00000349339.1_Missense_Mutation_p.R44W			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	44								p.R44R(1)									CAGGGGATTCCGGGAATATCA	0.473																																						uc002xer.1																			1	Substitution - coding silent(1)	p.R44R(2)	lung(1)	breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18						c.(130-132)Cgg>Tgg		Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	150.0	138.0	142.0		130,130	5.9	1.0	20	dbSNP_134	142	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	C20orf152	NM_001207076.1,NM_080834.2	101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	44/424,44/573	34560629	2,13004	2203	4300	6503	SO:0001583	missense	140894							g.chr20:34560629C>T	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.130C>T	20.37:g.34560629C>T	ENSP00000363084:p.Arg44Trp					C20orf152_uc002xes.1_Missense_Mutation_p.R44W|C20orf152_uc010gfp.1_Non-coding_Transcript	p.R44W	NM_080834	NP_543024	Q96M20	CT152_HUMAN			1	286	+	Breast(12;0.00631)		44					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.130C>T		.	.	.	.	.	.	.	.	.	.	C	26.3	4.726843	0.89390	0.0	2.33E-4	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.15718	2.4;2.4;2.51	5.9	5.9	0.94986	.	0.000000	0.53938	D	0.000047	T	0.41743	0.1172	M	0.66939	2.045	0.41863	D	0.990235	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.15694	-1.0428	10	0.87932	D	0	-30.1333	15.779	0.78246	0.0:1.0:0.0:0.0	.	44;44	Q96M20;Q96M20-2	CT152_HUMAN;.	W	44	ENSP00000363084:R44W;ENSP00000340954:R44W;ENSP00000442729:R44W	ENSP00000340954:R44W	R	+	1	2	C20orf152	34024043	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.311000	0.43717	2.788000	0.95919	0.650000	0.86243	CGG		0.473	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	
TIAM1	7074	broad.mit.edu	37	21	32638854	32638854	+	Silent	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr21:32638854T>C	ENST00000286827.3	-	5	906	c.435A>G	c.(433-435)ggA>ggG	p.G145G	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.G145G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	145					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCTCCTGCCTCCCTCAGCCA	0.547																																						uc002yow.1																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(433-435)ggA>ggG		Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.							105.0	94.0	97.0					21																	32638854		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638854T>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.435A>G	21.37:g.32638854T>C						TIAM1_uc011adk.1_Silent_p.G145G|TIAM1_uc011adl.1_Silent_p.G145G|TIAM1_uc002yox.1_Intron	p.G145G	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			4	907	-			145					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.435A>G	CCDS13609.1																																																																																				0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			17	Substitution - Missense(9)|Substitution - coding silent(8)	p.K373E(18)|p.S372S(16)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(1114-1119)tccaag>tcTGag	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840_29091841TG>CA	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu					CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	p.K373E	NM_007194	NP_009125	O96017	CHK2_HUMAN			10	1188_1189	-			373			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	DNP	ENST00000405598.1	37	c.1116_1117CA>TG	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
CSN3	1448	broad.mit.edu	37	4	71114964	71114964	+	Missense_Mutation	SNP	C	C	A	rs200375927		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:71114964C>A	ENST00000304954.3	+	4	423	c.337C>A	c.(337-339)Ctg>Atg	p.L113M		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCGCCCAAACCTGCATCCATC	0.468																																						uc003hfe.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(337-339)Ctg>Atg		Homo sapiens casein kappa (CSN3), mRNA.							127.0	113.0	118.0					4																	71114964		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114964C>A	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.337C>A	4.37:g.71114964C>A	ENSP00000304822:p.Leu113Met						p.L113M	NM_005212	NP_005203	P07498	CASK_HUMAN			3	395	+			113					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.337C>A	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010521	0.19277	.	.	ENSG00000171209	ENST00000304954	T	0.23147	1.92	4.4	-0.322	0.12713	.	1.813730	0.03302	N	0.189179	T	0.31104	0.0786	N	0.24115	0.695	0.09310	N	1	P	0.48998	0.918	P	0.59948	0.866	T	0.17228	-1.0376	10	0.87932	D	0	-5.9213	3.5141	0.07718	0.173:0.4452:0.0:0.3818	.	113	P07498	CASK_HUMAN	M	113	ENSP00000304822:L113M	ENSP00000304822:L113M	L	+	1	2	CSN3	71149553	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.114000	0.03293	-0.104000	0.12154	-0.182000	0.12963	CTG		0.468	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212	
ANKRD17	26057	broad.mit.edu	37	4	73984505	73984505	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:73984505C>T	ENST00000358602.4	-	22	4204	c.4088G>A	c.(4087-4089)gGt>gAt	p.G1363D	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G1250D|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G1112D|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1363					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTGTCCACCATTTGCTGC	0.443																																						uc003hgp.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4087-4089)gGt>gAt		Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.							192.0	171.0	178.0					4																	73984505		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73984505C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4088G>A	4.37:g.73984505C>T	ENSP00000351416:p.Gly1363Asp					ANKRD17_uc003hgo.3_Missense_Mutation_p.G1250D|ANKRD17_uc003hgq.3_Missense_Mutation_p.G1112D|ANKRD17_uc003hgr.3_Missense_Mutation_p.G1362D|ANKRD17_uc011cbd.1_Missense_Mutation_p.G928D	p.G1363D	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		21	4205	-	Breast(15;0.000295)		1363					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4088G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119656	0.94385	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.64618	-0.11;-0.11;-0.11	5.53	5.53	0.82687	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	T	0.77751	0.4177	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.89917	0.987;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.966;0.999;0.999;1.0;0.967	T	0.78125	-0.2326	10	0.59425	D	0.04	.	19.4703	0.94961	0.0:1.0:0.0:0.0	.	884;1362;1112;1363;1250	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	D	1363;1112;1250	ENSP00000351416:G1363D;ENSP00000332265:G1112D;ENSP00000427151:G1250D	ENSP00000332265:G1112D	G	-	2	0	ANKRD17	74203369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.600000	0.87896	0.561000	0.74099	GGT		0.443	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
AFF1	4299	broad.mit.edu	37	4	88047292	88047292	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:88047292T>C	ENST00000307808.6	+	13	3014	c.2594T>C	c.(2593-2595)cTc>cCc	p.L865P	AFF1_ENST00000544085.1_Missense_Mutation_p.L503P|AFF1_ENST00000395146.4_Missense_Mutation_p.L872P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	865					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGGAAATGCTCCCCCCGCCA	0.577																																						uc011ccz.2																			0				breast(1)|large_intestine(2)	3						c.(2614-2616)cTc>cCc		Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.							69.0	72.0	71.0					4																	88047292		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88047292T>C	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2594T>C	4.37:g.88047292T>C	ENSP00000305689:p.Leu865Pro					AFF1_uc003hqj.4_Missense_Mutation_p.L865P|AFF1_uc003hqk.4_Missense_Mutation_p.L865P|AFF1_uc011cda.2_Missense_Mutation_p.L503P	p.L872P	NM_001166693	NP_001160165	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	13	2890	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	865			Poly-Ser.		B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2615T>C	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	T	8.003	0.755733	0.15846	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.72615	-0.67;-0.67;-0.67	5.63	2.89	0.33648	.	0.475948	0.19771	N	0.106432	T	0.62454	0.2429	M	0.69823	2.125	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.14023	0.01;0.01;0.01	T	0.56159	-0.8025	10	0.28530	T	0.3	-11.5148	3.5104	0.07706	0.1672:0.2711:0.0:0.5617	.	872;865;865	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	P	872;865;503	ENSP00000378578:L872P;ENSP00000305689:L865P;ENSP00000440843:L503P	ENSP00000305689:L865P	L	+	2	0	AFF1	88266316	0.508000	0.26154	0.959000	0.39883	0.210000	0.24377	0.628000	0.24522	0.955000	0.37878	0.519000	0.50382	CTC		0.577	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
ADH1B	125	broad.mit.edu	37	4	100239237	100239237	+	Missense_Mutation	SNP	C	C	A	rs548284382		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100239237C>A	ENST00000305046.8	-	3	292	c.225G>T	c.(223-225)gaG>gaT	p.E75D	ADH1B_ENST00000394887.3_Missense_Mutation_p.E35D|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	75					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTCCAACACTCTCCACGATGC	0.537																																						uc003hus.4																			0		p.V74M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(223-225)gaG>gaT		Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						213.0	195.0	201.0					4																	100239237		2203	4298	6501	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100239237C>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.225G>T	4.37:g.100239237C>A	ENSP00000306606:p.Glu75Asp					ADH1B_uc003hut.4_Missense_Mutation_p.E35D|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E35D	p.E75D	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	2	309	-			75					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.225G>T	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757874	0.31137	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.05717	3.63;3.4	4.17	2.4	0.29515	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.103651	0.64402	D	0.000005	T	0.13243	0.0321	M	0.77712	2.385	0.58432	D	0.999995	B;B	0.31581	0.329;0.009	B;B	0.38616	0.277;0.12	T	0.01604	-1.1314	10	0.87932	D	0	-13.9799	12.0366	0.53429	0.0:0.7716:0.0:0.2284	.	35;75	A8MYN5;P00325	.;ADH1B_HUMAN	D	75;35;75	ENSP00000306606:E75D;ENSP00000378351:E35D	ENSP00000306606:E75D	E	-	3	2	ADH1B	100458260	0.282000	0.24268	0.995000	0.50966	0.632000	0.37999	-0.351000	0.07711	-0.045000	0.13468	-1.134000	0.01955	GAG		0.537	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
ADH1C	126	broad.mit.edu	37	4	100268197	100268197	+	RNA	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100268197T>A	ENST00000510055.1	-	0	399				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTCAAACACTTTCCACGATGC	0.517																																						uc021xqi.1																			0													Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						210.0	202.0	205.0					4																	100268197		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100268197T>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268197T>A								NM_000669		P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	2		-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.310A>T																																																																																					0.517	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669	
MMAA	166785	broad.mit.edu	37	4	146576356	146576356	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:146576356A>T	ENST00000281317.5	+	7	2237	c.1027A>T	c.(1027-1029)Aaa>Taa	p.K343*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.K62*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	343					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATAAAATGAAAGATTTCCA	0.428																																						uc003ikh.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(1027-1029)Aaa>Taa		Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						87.0	88.0	88.0					4																	146576356		2203	4300	6503	SO:0001587	stop_gained	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146576356A>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.1027A>T	4.37:g.146576356A>T	ENSP00000281317:p.Lys343*					MMAA_uc010iow.3_Non-coding_Transcript	p.K343*	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN			6	1112	+	all_hematologic(180;0.151)		343					B3KX40|Q495G7	Nonsense_Mutation	SNP	ENST00000281317.5	37	c.1027A>T	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	A	47	13.607130	0.99752	.	.	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	.	.	.	5.74	4.52	0.55395	.	0.653395	0.17197	N	0.183265	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-12.2338	11.6451	0.51257	0.7174:0.2826:0.0:0.0	.	.	.	.	X	343;343;62	.	ENSP00000281317:K343X	K	+	1	0	MMAA	146795806	0.149000	0.22717	0.982000	0.44146	0.768000	0.43524	0.758000	0.26447	0.961000	0.38030	0.482000	0.46254	AAA		0.428	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
CCDC110	256309	broad.mit.edu	37	4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A	rs376940059		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:186382220G>A	ENST00000307588.3	-	5	406	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Intron	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	111						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338																																						uc003ixu.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(331-333)Cgc>Tgc		Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.		G	,CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	136.0	131.0	133.0		,331	0.2	0.0	4		133	0,8596		0,0,4298	no	intron,missense	CCDC110	NM_001145411.1,NM_152775.3	,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,benign	,111/834	186382220	1,12999	2202	4298	6500	SO:0001583	missense	256309					nucleus		g.chr4:186382220G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.331C>T	4.37:g.186382220G>A	ENSP00000306776:p.Arg111Cys					CCDC110_uc003ixv.4_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C	p.R111C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	4	407	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	111					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.331C>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025675	0.19512	2.27E-4	0.0	ENSG00000168491	ENST00000307588;ENST00000510617;ENST00000506876	T;T;T	0.45668	3.26;3.26;0.89	5.95	0.183	0.15082	.	0.491796	0.18486	N	0.139787	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.06405	0.002;0.001	T	0.13415	-1.0510	10	0.59425	D	0.04	2.0658	5.6362	0.17538	0.3409:0.0:0.5398:0.1193	.	111;111	B4DZA2;Q8TBZ0	.;CC110_HUMAN	C	111	ENSP00000306776:R111C;ENSP00000427246:R111C;ENSP00000425276:R111C	ENSP00000306776:R111C	R	-	1	0	CCDC110	186619214	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	0.324000	0.19610	-0.062000	0.13088	-0.839000	0.03059	CGC		0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
FBN2	2201	broad.mit.edu	37	5	127671244	127671244	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:127671244G>A	ENST00000508053.1	-	35	4724	c.3750C>T	c.(3748-3750)aaC>aaT	p.N1250N	FBN2_ENST00000262464.4_Silent_p.N1250N|FBN2_ENST00000508989.1_Silent_p.N1217N|FBN2_ENST00000507835.1_Silent_p.N100N			P35556	FBN2_HUMAN	fibrillin 2	1250	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCCTCCGTTCATTATCA	0.438																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3748-3750)aaC>aaT		Homo sapiens fibrillin 2 (FBN2), mRNA.							163.0	154.0	157.0					5																	127671244		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127671244G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3750C>T	5.37:g.127671244G>A						FBN2_uc003kuv.2_Silent_p.N1217N	p.N1250N	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	28	4189	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1250			EGF-like 19; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3750C>T	CCDS34222.1																																																																																				0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PCDHA3	56145	broad.mit.edu	37	5	140181057	140181057	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:140181057G>A	ENST00000522353.2	+	1	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R92H	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATAGACCGCGAGGAACTG	0.587																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(274-276)cGc>cAc		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							125.0	141.0	136.0					5																	140181057		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181057G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.275G>A	5.37:g.140181057G>A	ENSP00000429808:p.Arg92His					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R92H	p.R92H	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	275	+			107			Cadherin 1.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.275G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.324016	0.81580	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53857	0.6;0.6	4.51	4.51	0.55191	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.40818	U	0.001002	D	0.84674	0.5524	H	0.99555	4.625	0.41321	D	0.987176	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.957	D	0.92368	0.5903	10	0.87932	D	0	.	17.5661	0.87920	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	92	ENSP00000429808:R92H;ENSP00000434086:R92H	ENSP00000429808:R92H	R	+	2	0	PCDHA3	140161241	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.866000	0.99616	2.228000	0.72767	0.467000	0.42956	CGC		0.587	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
N4BP3	23138	broad.mit.edu	37	5	177547367	177547367	+	Silent	SNP	C	C	T	rs559636054		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:177547367C>T	ENST00000274605.5	+	3	878	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	173						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGCTGCACGCCCTCAGCC	0.711													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12166	0.0		0.0	False		,,,				2504	0.0					uc003mik.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(517-519)caC>caT		Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.							24.0	28.0	27.0					5																	177547367		2201	4298	6499	SO:0001819	synonymous_variant	23138					cytoplasmic vesicle membrane		g.chr5:177547367C>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.519C>T	5.37:g.177547367C>T						N4BP3_uc003mil.1_5'Flank	p.H173H	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	766	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	173					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	ENST00000274605.5	37	c.519C>T	CCDS34307.1																																																																																				0.711	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111	
OR2Y1	134083	broad.mit.edu	37	5	180166656	180166656	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:180166656T>C	ENST00000307832.2	-	1	443	c.403A>G	c.(403-405)Atc>Gtc	p.I135V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGCATGATGGCCATGTAG	0.587																																						uc003mmf.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(403-405)Atc>Gtc		Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.							65.0	58.0	60.0					5																	180166656		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166656T>C	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.403A>G	5.37:g.180166656T>C	ENSP00000312403:p.Ile135Val						p.I135V	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		0	403	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	135					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.403A>G	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	t	6.174	0.400258	0.11696	.	.	ENSG00000174339	ENST00000307832	T	0.02050	4.48	4.41	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.124821	0.36134	N	0.002773	T	0.02156	0.0067	L	0.35487	1.065	0.24777	N	0.992835	P	0.36412	0.552	B	0.37731	0.257	T	0.44682	-0.9312	10	0.46703	T	0.11	.	6.2994	0.21105	0.1577:0.0:0.1646:0.6777	.	135	Q8NGV0	OR2Y1_HUMAN	V	135	ENSP00000312403:I135V	ENSP00000312403:I135V	I	-	1	0	OR2Y1	180099262	0.127000	0.22367	0.158000	0.22627	0.006000	0.05464	0.423000	0.21313	0.280000	0.22209	-0.732000	0.03574	ATC		0.587	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682	
PKHD1	5314	broad.mit.edu	37	6	51918901	51918901	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:51918901G>A	ENST00000371117.3	-	20	2174	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	PKHD1_ENST00000340994.4_Silent_p.I633I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	633					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGAAAGCCGATTGTGAAGG	0.478																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1897-1899)atC>atT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							162.0	132.0	142.0					6																	51918901		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918901G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1899C>T	6.37:g.51918901G>A						PKHD1_uc003pai.3_Silent_p.I633I	p.I633I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			19	2175	-	Lung NSC(77;0.0605)		633					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1899C>T	CCDS4935.1																																																																																				0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
NMBR	4829	broad.mit.edu	37	6	142397171	142397171	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:142397171G>A	ENST00000258042.1	-	3	927	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	263					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTAGCCAGGCGTTTCCGTGTT	0.388																																						uc003qiu.3																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(787-789)Cgc>Tgc		Homo sapiens neuromedin B receptor (NMBR), mRNA.							64.0	56.0	59.0					6																	142397171		2203	4299	6502	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397171G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.787C>T	6.37:g.142397171G>A	ENSP00000258042:p.Arg263Cys						p.R263C	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	928	-	Breast(32;0.155)		263					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.787C>T	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222624	0.79464	.	.	ENSG00000135577	ENST00000258042	T	0.45276	0.9	5.3	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.045522	0.85682	D	0.000000	T	0.68742	0.3034	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80901	-0.1175	10	0.87932	D	0	-8.8299	16.401	0.83641	0.0:0.1318:0.8682:0.0	.	263	P28336	NMBR_HUMAN	C	263	ENSP00000258042:R263C	ENSP00000258042:R263C	R	-	1	0	NMBR	142438864	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.372000	0.73123	1.362000	0.46000	0.655000	0.94253	CGC		0.388	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1		
PPP1R14C	81706	broad.mit.edu	37	6	150464589	150464589	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:150464589G>A	ENST00000361131.4	+	1	378	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	87					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GGCTGGTGCTGGAGGAATGGA	0.637																																					Melanoma(165;1879 1941 2052 16588 48349)	uc003qnt.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(259-261)ctG>ctA		Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.							33.0	35.0	34.0					6																	150464589		2203	4300	6503	SO:0001819	synonymous_variant	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150464589G>A	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.261G>A	6.37:g.150464589G>A							p.L87L	NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	0	402	+		Ovarian(120;0.0284)	87					Q5VY83|Q96BB1|Q9H277	Silent	SNP	ENST00000361131.4	37	c.261G>A	CCDS5226.1																																																																																				0.637	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949	
PRPS1L1	221823	broad.mit.edu	37	7	18067222	18067222	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:18067222C>T	ENST00000506618.2	-	1	264	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	62					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCGTTGATTTCGCCACAACCA	0.473																																						uc003stz.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(184-186)Gaa>Aaa		Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.							365.0	356.0	359.0					7																	18067222		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067222C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.184G>A	7.37:g.18067222C>T	ENSP00000424595:p.Glu62Lys						p.E62K	NM_175886	NP_787082	P21108	PRPS3_HUMAN			0	265	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		62					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.184G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525333	0.64747	.	.	ENSG00000229937	ENST00000506618	D	0.91295	-2.82	4.4	2.57	0.30868	.	.	.	.	.	D	0.89022	0.6597	L	0.41710	1.295	.	.	.	P	0.50943	0.94	P	0.52598	0.703	D	0.89152	0.3524	8	0.66056	D	0.02	.	8.0997	0.30850	0.0:0.7503:0.1593:0.0904	.	62	P21108	PRPS3_HUMAN	K	62	ENSP00000424595:E62K	ENSP00000424595:E62K	E	-	1	0	PRPS1L1	18033747	0.999000	0.42202	0.346000	0.25655	0.790000	0.44656	4.173000	0.58249	0.590000	0.29694	0.650000	0.86243	GAA		0.473	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886	
MLXIPL	51085	broad.mit.edu	37	7	73011080	73011080	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:73011080G>A	ENST00000313375.3	-	11	1758	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	MLXIPL_ENST00000414749.2_Missense_Mutation_p.P571S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P477S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P571S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P571S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P478S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	571					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCCGGGGTCGGGGGAAGGAAT	0.701																																						uc003tyn.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1711-1713)Ccg>Tcg		Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.							16.0	21.0	19.0					7																	73011080		2160	4260	6420	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73011080G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1711C>T	7.37:g.73011080G>A	ENSP00000320886:p.Pro571Ser					MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.P571S|MLXIPL_uc003tym.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.P477S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P338S	p.P571S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			10	1759	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	571					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1711C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	g	4.290	0.052955	0.08291	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.22134	2.56;2.57;2.57;2.56;1.97;1.97	4.22	3.32	0.38043	.	0.676716	0.13018	N	0.420308	T	0.22859	0.0552	L	0.29908	0.895	0.19300	N	0.999979	D;D;P;P;P;P	0.63046	0.965;0.992;0.629;0.745;0.779;0.779	P;P;B;B;B;B	0.57009	0.461;0.811;0.248;0.431;0.367;0.367	T	0.07404	-1.0774	10	0.13470	T	0.59	-7.657	7.875	0.29589	0.1156:0.0:0.8844:0.0	.	478;478;571;571;571;571	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	S	571;571;571;571;478;477	ENSP00000412330:P571S;ENSP00000406296:P571S;ENSP00000320886:P571S;ENSP00000346629:P571S;ENSP00000378616:P478S;ENSP00000392636:P477S	ENSP00000320886:P571S	P	-	1	0	MLXIPL	72649016	0.268000	0.24133	0.348000	0.25681	0.820000	0.46376	1.328000	0.33758	1.127000	0.42034	0.531000	0.56144	CCG		0.701	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951	
DYNC1I1	1780	broad.mit.edu	37	7	95616403	95616403	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:95616403G>A	ENST00000324972.6	+	9	1023	c.830G>A	c.(829-831)cGt>cAt	p.R277H	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R257H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R260H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R240H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R240H|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R260H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	277					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTTCAATCGTCAGTTCTAT	0.443																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(829-831)cGt>cAt		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							289.0	282.0	284.0					7																	95616403		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95616403G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.830G>A	7.37:g.95616403G>A	ENSP00000320130:p.Arg277His					DYNC1I1_uc003uod.4_Missense_Mutation_p.R260H|DYNC1I1_uc003uob.3_Missense_Mutation_p.R240H|DYNC1I1_uc003uoe.4_Missense_Mutation_p.R257H|DYNC1I1_uc010lfl.3_Missense_Mutation_p.R266H	p.R277H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	1107	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		277					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.830G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838459	0.91117	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.75050	-0.67;-0.69;-0.9;-0.68;-0.67;-0.67	3.72	3.72	0.42706	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.81614	2.55	0.80722	D	1	D;D;D;D;P	0.57899	0.968;0.981;0.981;0.98;0.926	P;P;P;P;P	0.54924	0.679;0.764;0.764;0.53;0.531	D	0.85312	0.1079	10	0.48119	T	0.1	-20.9596	16.8119	0.85724	0.0:0.0:1.0:0.0	.	260;257;260;277;240	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	H	260;277;240;257;240;260	ENSP00000392337:R260H;ENSP00000320130:R277H;ENSP00000438377:R240H;ENSP00000398118:R257H;ENSP00000352348:R240H;ENSP00000412444:R260H	ENSP00000320130:R277H	R	+	2	0	DYNC1I1	95454339	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.531000	0.98054	2.361000	0.80049	0.563000	0.77884	CGT		0.443	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
CYP3A7	1551	broad.mit.edu	37	7	99332692	99332692	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:99332692C>T	ENST00000336374.2	-	1	27	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	9					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGGTTTCCACGGCCAAGTTT	0.498																																						uc003uru.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(25-27)Gtg>Atg		Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.							176.0	147.0	157.0					7																	99332692		2203	4300	6503	SO:0001583	missense	1577				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99332692C>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.25G>A	7.37:g.99332692C>T	ENSP00000337450:p.Val9Met					ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Missense_Mutation_p.V9M	p.V9M	NM_000765	NP_000756	P24462	CP3A7_HUMAN			0	128	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		9					A4D288|Q9H241	Translation_Start_Site	SNP	ENST00000336374.2	37	c.25G>A	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.297943	0.00243	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.02579	4.24	3.49	-6.98	0.01611	.	0.972502	0.08482	N	0.939310	T	0.00936	0.0031	N	0.02158	-0.66	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47182	-0.9137	10	0.22109	T	0.4	.	2.7226	0.05205	0.1314:0.3027:0.3976:0.1683	.	9	P24462	CP3A7_HUMAN	M	9	ENSP00000337450:V9M	ENSP00000292414:V9M	V	-	1	0	CYP3A7	99170628	0.000000	0.05858	0.003000	0.11579	0.205000	0.24178	-1.491000	0.02302	-1.876000	0.01131	-1.291000	0.01355	GTG		0.498	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1		
KMT2E	55904	broad.mit.edu	37	7	104681416	104681416	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:104681416C>T	ENST00000311117.3	+	3	562	c.17C>T	c.(16-18)cCa>cTa	p.P6L	KMT2E_ENST00000476671.1_Missense_Mutation_p.P6L|KMT2E_ENST00000257745.4_Missense_Mutation_p.P6L|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.P6L	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	6					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ATAGTGATCCCATTGGGGGTT	0.428																																						uc003vcm.3																			0				NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						c.(16-18)cCa>cTa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.							115.0	106.0	109.0					7																	104681416		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104681416C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.17C>T	7.37:g.104681416C>T	ENSP00000312379:p.Pro6Leu					MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6L|MLL5_uc003vcl.3_Missense_Mutation_p.P6L|MLL5_uc010ljc.3_Missense_Mutation_p.P6L	p.P6L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			2	551	+			6					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.17C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157461	0.78114	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000495267;ENST00000476671;ENST00000474203	D;D;D;D;T;D	0.97186	-3.27;-2.74;-3.27;-4.28;1.33;-3.52	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	L	0.50333	1.59	0.80722	D	1	B;D	0.89917	0.297;1.0	B;D	0.83275	0.081;0.996	D	0.99026	1.0819	10	0.87932	D	0	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	6;6	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	L	6	ENSP00000312379:P6L;ENSP00000335599:P6L;ENSP00000257745:P6L;ENSP00000419883:P6L;ENSP00000420415:P6L;ENSP00000417888:P6L	ENSP00000257745:P6L	P	+	2	0	MLL5	104468652	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.575000	0.86900	0.585000	0.79938	CCA		0.428	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
PRKAR2B	5577	broad.mit.edu	37	7	106786905	106786905	+	Splice_Site	SNP	T	T	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:106786905T>G	ENST00000265717.4	+	6	999	c.740T>G	c.(739-741)tTg>tGg	p.L247W		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTGTGGGGTTTGGTGAGTAAA	0.398																																						uc003vdx.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						c.e6+1		Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.							133.0	115.0	121.0					7																	106786905		2203	4300	6503	SO:0001630	splice_region_variant	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106786905T>G		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.741+1T>G	7.37:g.106786905T>G							p.L247_splice	NM_002736	NP_002727	P31323	KAP3_HUMAN			6	916	+			247					A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.741_splice	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.032087	0.93575	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	T	0.58506	0.33	5.57	5.57	0.84162	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91743	0.5406	10	0.87932	D	0	-3.3105	15.7339	0.77827	0.0:0.0:0.0:1.0	.	247	P31323	KAP3_HUMAN	W	247;247;234	ENSP00000265717:L247W	ENSP00000265717:L247W	L	+	2	0	PRKAR2B	106574141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.991000	0.88244	2.134000	0.65973	0.533000	0.62120	TTG		0.398	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1		Missense_Mutation
DNAJB5	25822	broad.mit.edu	37	9	34996743	34996743	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:34996743C>T	ENST00000541010.1	+	2	3705	c.693C>T	c.(691-693)ggC>ggT	p.G231G	DNAJB5_ENST00000312316.5_Silent_p.G231G|DNAJB5_ENST00000453597.3_Silent_p.G345G|DNAJB5_ENST00000454002.2_Silent_p.G303G|DNAJB5_ENST00000545841.1_Silent_p.G231G|DNAJB5_ENST00000335998.3_Silent_p.G265G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	231					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAAAGAAGGCGACGCCACAC	0.562																																						uc011los.2																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(907-909)ggC>ggT		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.							80.0	69.0	72.0					9																	34996743		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34996743C>T	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.693C>T	9.37:g.34996743C>T						DNAJB5_uc003zvs.3_Silent_p.G265G|DNAJB5_uc003zvt.3_Silent_p.G231G	p.G303G	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	1270	+			231					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.909C>T	CCDS35007.1																																																																																				0.562	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1		
OR13C5	138799	broad.mit.edu	37	9	107360795	107360795	+	Missense_Mutation	SNP	G	G	T	rs549535238		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:107360795G>T	ENST00000374779.2	-	1	993	c.900C>A	c.(898-900)aaC>aaA	p.N300K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCACATCCTTGTTTCTAAGAC	0.338																																						uc011lvp.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(898-900)aaC>aaA		Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.							102.0	109.0	106.0					9																	107360795		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107360795G>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.900C>A	9.37:g.107360795G>T	ENSP00000363911:p.Asn300Lys						p.N300K	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			0	900	-			300					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.900C>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738584	0.69304	.	.	ENSG00000255800	ENST00000374779	T	0.50001	0.76	4.03	-0.843	0.10744	.	0.000000	0.40302	U	0.001131	T	0.73393	0.3581	H	0.99299	4.505	0.09310	N	1	D	0.58970	0.984	P	0.58013	0.831	T	0.67150	-0.5743	10	0.87932	D	0	.	8.2009	0.31424	0.6195:0.0:0.3805:0.0	.	300	Q8NGS8	O13C5_HUMAN	K	300	ENSP00000363911:N300K	ENSP00000363911:N300K	N	-	3	2	OR13C5	106400616	0.129000	0.22400	0.014000	0.15608	0.837000	0.47467	0.062000	0.14389	-0.382000	0.07870	0.423000	0.28283	AAC		0.338	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482	
SAPCD2	89958	broad.mit.edu	37	9	139959160	139959160	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:139959160C>T	ENST00000409687.3	-	6	1263	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	RP11-229P13.23_ENST00000456356.2_RNA|RP11-229P13.22_ENST00000435463.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	379						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											GCTCAGGGCGCGGGCCTCAAA	0.647											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011men.2																			0											c.(1135-1137)cGc>cAc		Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.							35.0	34.0	34.0					9																	139959160		2189	4293	6482	SO:0001583	missense	89958					cytoplasm|nucleus		g.chr9:139959160C>T	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.1136G>A	9.37:g.139959160C>T	ENSP00000386348:p.Arg379His		OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652		p.R379H	NM_178448	NP_848543	Q86UD0	CI140_HUMAN			5	1252	-			379						Missense_Mutation	SNP	ENST00000409687.3	37	c.1136G>A	CCDS7027.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144947	0.77888	.	.	ENSG00000186193	ENST00000409687	T	0.58797	0.31	3.72	3.72	0.42706	.	0.000000	0.64402	D	0.000009	T	0.72795	0.3505	M	0.72894	2.215	0.50813	D	0.999894	D	0.89917	1.0	D	0.79784	0.993	T	0.76708	-0.2860	10	0.72032	D	0.01	-28.1118	13.0146	0.58749	0.0:1.0:0.0:0.0	.	379	Q86UD0	CI140_HUMAN	H	379	ENSP00000386348:R379H	ENSP00000386348:R379H	R	-	2	0	C9orf140	139078981	0.063000	0.20901	0.708000	0.30435	0.579000	0.36224	2.473000	0.45145	1.916000	0.55485	0.313000	0.20887	CGC		0.647	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448	
MAP3K15	389840	broad.mit.edu	37	X	19391804	19391804	+	Missense_Mutation	SNP	C	C	T	rs369415318		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:19391804C>T	ENST00000338883.4	-	21	2782	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	MAP3K15_ENST00000469203.2_Missense_Mutation_p.R760H|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R363H	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	928							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GACGACACCGCGGGGACCTTC	0.677																																						uc022btq.1																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2782-2784)cGc>cAc		Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.			HIS/ARG	0,3835		0,0,1632,571	31.0	28.0	29.0		2783	-1.0	0.0	X		29	1,6727		0,1,2427,1872	no	missense	MAP3K15	NM_001001671.3	29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	928/1314	19391804	1,10562	2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19391804C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2783G>A	X.37:g.19391804C>T	ENSP00000345629:p.Arg928His					MAP3K15_uc004czj.2_Missense_Mutation_p.R363H|MAP3K15_uc004czk.2_Missense_Mutation_p.R403H|MAP3K15_uc004czi.2_5'Flank	p.R928H	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			20	2783	-	Hepatocellular(33;0.183)		928					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.2783G>A		.	.	.	.	.	.	.	.	.	.	c	11.15	1.552549	0.27739	0.0	1.49E-4	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.25085	1.82;1.82;1.82	4.31	-1.0	0.10196	Protein kinase-like domain (1);	0.393126	0.27941	N	0.017233	T	0.10078	0.0247	N	0.14661	0.345	0.09310	N	1	B;B	0.31485	0.325;0.01	B;B	0.26614	0.071;0.002	T	0.25710	-1.0124	10	0.23891	T	0.37	.	5.409	0.16339	0.1289:0.5521:0.0:0.319	.	403;928	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	H	928;363;760	ENSP00000345629:R928H;ENSP00000352093:R363H;ENSP00000428356:R760H	ENSP00000345629:R928H	R	-	2	0	MAP3K15	19301725	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.433000	0.21477	-0.544000	0.06232	0.509000	0.49947	CGC		0.677	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
ZNF41	7592	broad.mit.edu	37	X	47307679	47307679	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:47307679C>T	ENST00000377065.4	-	5	2129	c.1490G>A	c.(1489-1491)tGt>tAt	p.C497Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.C497Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.C507Y|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATTCTGTACATATATAGGG	0.428																																						uc004dhs.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1615-1617)tGt>tAt		Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.							105.0	99.0	101.0					X																	47307679		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307679C>T	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1490G>A	X.37:g.47307679C>T	ENSP00000366265:p.Cys497Tyr					ZNF41_uc004dhu.4_Missense_Mutation_p.C531Y|ZNF41_uc004dht.4_Missense_Mutation_p.C411Y|ZNF41_uc004dhv.4_Missense_Mutation_p.C507Y|ZNF41_uc004dhw.4_Missense_Mutation_p.C499Y|ZNF41_uc004dhy.4_Missense_Mutation_p.C497Y|ZNF41_uc004dhx.4_Missense_Mutation_p.C497Y|ZNF41_uc011mlm.2_Missense_Mutation_p.C411Y	p.C539Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN			3	1683	-		all_lung(315;0.000129)	539					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1616G>A	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550601	0.65311	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.85088	-1.94;-1.94;-1.94	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38217	N	0.001780	D	0.94321	0.8175	H	0.96239	3.79	0.38847	D	0.956195	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.999;0.999	D	0.96110	0.9076	10	0.87932	D	0	.	13.0759	0.59087	0.0:1.0:0.0:0.0	.	497;499;507;531;539	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Y	497;497;507	ENSP00000315173:C497Y;ENSP00000366265:C497Y;ENSP00000380243:C507Y	ENSP00000315173:C497Y	C	-	2	0	ZNF41	47192623	1.000000	0.71417	0.788000	0.31933	0.983000	0.72400	5.144000	0.64832	2.246000	0.74042	0.600000	0.82982	TGT		0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380	
GSPT2	23708	broad.mit.edu	37	X	51487380	51487380	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:51487380G>A	ENST00000340438.4	+	1	900	c.658G>A	c.(658-660)Gga>Aga	p.G220R		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	220	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GTCAACCATCGGAGGACAGAT	0.398																																						uc004dpl.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(658-660)Gga>Aga		Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.							39.0	34.0	36.0					X																	51487380		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487380G>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.658G>A	X.37:g.51487380G>A	ENSP00000341247:p.Gly220Arg						p.G220R	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			0	900	+	Ovarian(276;0.236)		220					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.658G>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434011	0.62955	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.70631	-0.5	4.43	4.43	0.53597	Protein synthesis factor, GTP-binding (1);	0.113654	0.64402	D	0.000014	D	0.86900	0.6044	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89811	0.3982	10	0.87932	D	0	-16.7545	13.953	0.64131	0.0:0.0:1.0:0.0	.	220	Q8IYD1	ERF3B_HUMAN	R	220;137	ENSP00000341247:G220R	ENSP00000341247:G220R	G	+	1	0	GSPT2	51504120	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.746000	0.62133	2.465000	0.83290	0.592000	0.82586	GGA		0.398	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1		
TENM1	10178	broad.mit.edu	37	X	123518365	123518365	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:123518365C>T	ENST00000371130.3	-	29	6458	c.6395G>A	c.(6394-6396)cGc>cAc	p.R2132H	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.R2139H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2132					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TATTACCATGCGGCCCACATT	0.393																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(6415-6417)cGc>cAc		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							203.0	171.0	182.0					X																	123518365		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518365C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6395G>A	X.37:g.123518365C>T	ENSP00000360171:p.Arg2132His					ODZ1_uc011muj.2_Missense_Mutation_p.R2138H|ODZ1_uc004euj.3_Missense_Mutation_p.R2132H	p.R2139H	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN			29	6480	-			2132					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6416G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031814	0.75504	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90133	-2.62;-2.59	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.962;0.987	D	0.95287	0.8391	10	0.87932	D	0	.	18.3494	0.90333	0.0:1.0:0.0:0.0	.	2138;2139;2132	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	2132;2139	ENSP00000360171:R2132H;ENSP00000403954:R2139H	ENSP00000360171:R2132H	R	-	2	0	ODZ1	123346046	1.000000	0.71417	0.851000	0.33527	0.991000	0.79684	7.818000	0.86416	2.272000	0.75746	0.544000	0.68410	CGC		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
ACTRT1	139741	broad.mit.edu	37	X	127185914	127185914	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:127185914T>G	ENST00000371124.3	-	1	468	c.272A>C	c.(271-273)cAt>cCt	p.H91P		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	91						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCAAAGAGATGTTTCCAGAG	0.493																																						uc004eum.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(271-273)cAt>cCt		Homo sapiens actin-related protein T1 (ACTRT1), mRNA.							222.0	209.0	213.0					X																	127185914		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185914T>G	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.272A>C	X.37:g.127185914T>G	ENSP00000360165:p.His91Pro						p.H91P	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			0	469	-			91					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.272A>C	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	5.800	0.331971	0.10956	.	.	ENSG00000123165	ENST00000371124	D	0.97505	-4.41	3.76	2.54	0.30619	.	0.412846	0.22123	N	0.064303	D	0.98670	0.9554	H	0.98133	4.155	0.22719	N	0.998817	D	0.56746	0.977	D	0.64506	0.926	D	0.94593	0.7789	10	0.87932	D	0	.	6.9399	0.24486	0.2077:0.0:0.0:0.7923	.	91	Q8TDG2	ACTT1_HUMAN	P	91	ENSP00000360165:H91P	ENSP00000360165:H91P	H	-	2	0	ACTRT1	127013595	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	7.166000	0.77553	0.577000	0.29470	0.441000	0.28932	CAT		0.493	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
ARHGEF6	9459	broad.mit.edu	37	X	135754253	135754253	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:135754253T>A	ENST00000250617.6	-	20	3266	c.2061A>T	c.(2059-2061)caA>caT	p.Q687H	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q533H|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q560H|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q533H	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	687					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|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-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GGAGTAGGACTTGTGGAATGG	0.458																																						uc004fab.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(2059-2061)caA>caT		Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.							207.0	180.0	189.0					X																	135754253		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135754253T>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.2061A>T	X.37:g.135754253T>A	ENSP00000250617:p.Gln687His					ARHGEF6_uc011mwd.2_Missense_Mutation_p.Q560H|ARHGEF6_uc011mwe.2_Missense_Mutation_p.Q533H	p.Q687H	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			19	2523	-	Acute lymphoblastic leukemia(192;0.000127)		687					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.2061A>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	9.372	1.070756	0.20147	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.56103	0.49;0.6;0.6;0.48	6.03	-2.06	0.07298	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	N	0.25789	0.76	0.47698	D	0.999495	B;B	0.21606	0.014;0.058	B;B	0.23852	0.033;0.049	T	0.05022	-1.0911	10	0.30854	T	0.27	.	11.3788	0.49743	0.0:0.377:0.0:0.623	.	560;687	B7Z3C7;Q15052	.;ARHG6_HUMAN	H	687;533;533;533;560	ENSP00000250617:Q687H;ENSP00000359654:Q533H;ENSP00000359656:Q533H;ENSP00000439483:Q560H	ENSP00000250617:Q687H	Q	-	3	2	ARHGEF6	135581919	0.997000	0.39634	0.967000	0.41034	0.078000	0.17371	0.313000	0.19415	-0.440000	0.07211	-0.314000	0.08810	CAA		0.458	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
PNCK	139728	broad.mit.edu	37	X	152936012	152936012	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:152936012C>T	ENST00000370150.1	-	11	1110	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	PNCK_ENST00000340888.3_Missense_Mutation_p.R311Q|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000447676.2_Missense_Mutation_p.R394Q|PNCK_ENST00000370142.1_Missense_Mutation_p.R334Q|PNCK_ENST00000393831.2_Missense_Mutation_p.R334Q|PNCK_ENST00000370145.4_Missense_Mutation_p.R328Q			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	311	Calmodulin-binding. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCTTCCGGATGTGGCG	0.687																																						uc011myu.2																			0				breast(2)|lung(3)|skin(1)	6						c.(1180-1182)cGg>cAg		Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.							21.0	21.0	21.0					X																	152936012		2199	4297	6496	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936012C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.932G>A	X.37:g.152936012C>T	ENSP00000359169:p.Arg311Gln					PNCK_uc011myt.2_Missense_Mutation_p.R328Q|PNCK_uc004fhz.4_Missense_Mutation_p.R209Q	p.R394Q	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			10	1367	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		311					B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.1181G>A		.	.	.	.	.	.	.	.	.	.	c	14.23	2.472153	0.43942	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676	T;T;T;T;T;T	0.66815	-0.23;-0.23;0.17;0.17;-0.22;-0.18	3.07	2.2	0.27929	Protein kinase-like domain (1);	0.225469	0.27531	N	0.018941	T	0.58764	0.2145	L	0.46741	1.465	0.26967	N	0.965675	D;P;P	0.63880	0.993;0.804;0.804	P;B;B	0.48677	0.586;0.213;0.213	T	0.50931	-0.8769	10	0.35671	T	0.21	-13.2965	4.7211	0.12918	0.0:0.4836:0.3782:0.1382	.	394;328;311	Q6P2M8-5;B4E1A6;Q6P2M8	.;.;KCC1B_HUMAN	Q	311;311;334;334;328;394	ENSP00000340586:R311Q;ENSP00000359169:R311Q;ENSP00000377417:R334Q;ENSP00000359161:R334Q;ENSP00000359164:R328Q;ENSP00000405950:R394Q	ENSP00000340586:R311Q	R	-	2	0	PNCK	152589206	0.007000	0.16637	0.942000	0.38095	0.496000	0.33645	0.368000	0.20399	0.696000	0.31696	0.529000	0.55759	CGG		0.687	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452	
