#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC9B1	150159	broad.mit.edu	37	4	103822448	103822448	+	Silent	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:103822448G>A	ENST00000296422.7	-	12	1515	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	458					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGTGGGGTGCGGAGACTCTTG	0.428																																						ENST00000296422.7																			0											c.(1372-1374)tcC>tcT		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							81.0	84.0	83.0					4																	103822448		2181	4255	6436	SO:0001819	synonymous_variant	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822448G>A	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1374C>T	4.37:g.103822448G>A						SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	p.S458S	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			12	1515	-			458					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	c.1374C>T	CCDS34041.1																																																																																				0.428	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		15	216	0	0	0	1	0	15	216				
CD93	22918	broad.mit.edu	37	20	23066171	23066171	+	Missense_Mutation	SNP	G	G	A	rs138932459		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:23066171G>A	ENST00000246006.4	-	1	806	c.659C>T	c.(658-660)gCg>gTg	p.A220V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	220			A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.A220V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TACATTGGCCGCAGAGGCAAA	0.617																																						ENST00000246006.4																			1	Substitution - Missense(1)	p.A220V(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(658-660)gCg>gTg		CD93 molecule		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	78.0	79.0	79.0		659	-2.6	0.0	20	dbSNP_134	79	0,8600		0,0,4300	no	missense	CD93	NM_012072.3	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	220/653	23066171	2,13004	2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066171G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.659C>T	20.37:g.23066171G>A	ENSP00000246006:p.Ala220Val						p.A220V	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	806	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		220		A -> V (in a colorectal cancer sample; somatic mutation).			O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.659C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.727262	0.00694	4.54E-4	0.0	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.28895	1.59	5.52	-2.56	0.06268	.	2.092740	0.02000	N	0.046191	T	0.09423	0.0232	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17745	-1.0359	10	0.10377	T	0.69	-1.4651	2.4339	0.04478	0.4712:0.1171:0.2978:0.1139	.	220	Q9NPY3	C1QR1_HUMAN	V	220	ENSP00000246006:A220V	ENSP00000246006:A220V	A	-	2	0	CD93	23014171	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.298000	0.19120	-0.106000	0.12110	-1.261000	0.01458	GCG		0.617	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		4	87	0	0	0	1	0	4	87				
CDC42BPG	55561	broad.mit.edu	37	11	64601218	64601218	+	Missense_Mutation	SNP	G	G	A	rs200874110		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr11:64601218G>A	ENST00000342711.5	-	22	2556	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ACCCCCATGCGCAGGCTGCGT	0.687																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(2557-2559)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							36.0	40.0	39.0					11																	64601218		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64601218G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2557C>T	11.37:g.64601218G>A	ENSP00000345133:p.Arg853Cys						p.R853C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			22	2556	-			853						Missense_Mutation	SNP	ENST00000342711.5	37	c.2557C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530481	0.64860	.	.	ENSG00000171219	ENST00000342711	T	0.68765	-0.35	5.18	5.18	0.71444	.	0.320083	0.22057	N	0.065235	T	0.57388	0.2050	N	0.08118	0	0.52501	D	0.999951	D	0.76494	0.999	P	0.51806	0.68	T	0.65417	-0.6173	10	0.62326	D	0.03	.	14.5737	0.68229	0.0:0.0:1.0:0.0	.	853	Q6DT37	MRCKG_HUMAN	C	853	ENSP00000345133:R853C	ENSP00000345133:R853C	R	-	1	0	CDC42BPG	64357794	0.969000	0.33509	0.998000	0.56505	0.184000	0.23303	5.003000	0.63959	2.595000	0.87683	0.561000	0.74099	CGC		0.687	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		3	40	0	0	0	1	0	3	40				
AMOT	154796	broad.mit.edu	37	X	112022266	112022266	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:112022266C>A	ENST00000524145.1	-	11	3190	c.3116G>T	c.(3115-3117)cGt>cTt	p.R1039L	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Missense_Mutation_p.R1039L|AMOT_ENST00000371962.1_Missense_Mutation_p.R807L|AMOT_ENST00000304758.1_Missense_Mutation_p.R630L			Q4VCS5	AMOT_HUMAN	angiomotin	1039					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TATAGACAAACGATGTGGTCC	0.488																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3115-3117)cGt>cTt		angiomotin							146.0	140.0	142.0					X																	112022266		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022266C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3116G>T	X.37:g.112022266C>A	ENSP00000429013:p.Arg1039Leu					AMOT_ENST00000371962.1_Missense_Mutation_p.R807L|AMOT_ENST00000304758.1_Missense_Mutation_p.R630L|AMOT_ENST00000524145.1_Missense_Mutation_p.R1039L	p.R1039L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	3115	-			1039					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.3116G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078947	0.36662	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.25749	1.78;1.83;2.07;1.83	5.14	2.19	0.27852	.	0.223495	0.32608	N	0.005877	T	0.13243	0.0321	N	0.19112	0.55	0.33265	D	0.560281	B	0.28082	0.2	B	0.28465	0.09	T	0.15752	-1.0426	10	0.27785	T	0.31	-1.2035	5.3342	0.15949	0.0:0.5606:0.1517:0.2877	.	1039	Q4VCS5	AMOT_HUMAN	L	630;1039;807;1039	ENSP00000305557:R630L;ENSP00000361027:R1039L;ENSP00000361030:R807L;ENSP00000429013:R1039L	ENSP00000305557:R630L	R	-	2	0	AMOT	111908922	0.997000	0.39634	0.431000	0.26735	0.930000	0.56654	1.011000	0.29911	0.561000	0.29186	0.529000	0.55759	CGT		0.488	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	125	1	0	1	1	1	4	125				
ATP11C	286410	broad.mit.edu	37	X	138857058	138857058	+	Silent	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:138857058T>C	ENST00000327569.3	-	19	2114	c.2016A>G	c.(2014-2016)aaA>aaG	p.K672K	ATP11C_ENST00000370543.1_Silent_p.K672K|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.K672K|ATP11C_ENST00000359686.2_Silent_p.K672K|ATP11C_ENST00000370557.1_Silent_p.K669K	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	672					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCACCCAGACTTTCAGGCCTG	0.483																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(2005-2007)aaA>aaG		ATPase, class VI, type 11C							107.0	93.0	98.0					X																	138857058		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138857058T>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2016A>G	X.37:g.138857058T>C						ATP11C_ENST00000370543.1_Silent_p.K672K|ATP11C_ENST00000327569.3_Silent_p.K672K|ATP11C_ENST00000361648.2_Silent_p.K672K|ATP11C_ENST00000359686.2_Silent_p.K672K|ATP11C_ENST00000460773.1_5'UTR	p.K669K			Q8NB49	AT11C_HUMAN			19	3034	-	Acute lymphoblastic leukemia(192;0.000127)		672					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.2007A>G	CCDS14668.1																																																																																				0.483	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		5	46	0	0	0	1	0	5	46				
PKHD1	5314	broad.mit.edu	37	6	51747892	51747892	+	Splice_Site	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr6:51747892T>C	ENST00000371117.3	-	46	7624	c.7349A>G	c.(7348-7350)aAg>aGg	p.K2450R	PKHD1_ENST00000340994.4_Splice_Site_p.K2450R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2450					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)					GGCACTTACCTTGTGGGCAAA	0.388																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.e46+1		polycystic kidney and hepatic disease 1 (autosomal recessive)							79.0	62.0	68.0					6																	51747892		2202	4300	6502	SO:0001630	splice_region_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.chr6:51747892T>C	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.7350+1A>G	6.37:g.51747892T>C						PKHD1_ENST00000340994.4_Splice_Site_p.K2450_splice	p.K2450_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			46	7624	-	Lung NSC(77;0.0605)		2450					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	ENST00000371117.3	37	c.7350_splice	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035726	0.54896	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87334	-2.05;-2.24	5.6	5.6	0.85130	.	0.130908	0.52532	D	0.000070	T	0.80513	0.4637	M	0.72479	2.2	0.80722	D	1	B;B;B	0.27971	0.191;0.196;0.191	B;B;B	0.35470	0.122;0.203;0.1	T	0.77616	-0.2521	10	0.14252	T	0.57	.	13.148	0.59474	0.0:0.0:0.0:1.0	.	2450;2450;2450	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	R	2450	ENSP00000360158:K2450R;ENSP00000341097:K2450R	ENSP00000341097:K2450R	K	-	2	0	PKHD1	51855851	0.994000	0.37717	0.948000	0.38648	0.910000	0.53928	2.001000	0.40825	2.143000	0.66587	0.482000	0.46254	AAG		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Missense_Mutation	12	19	0	0	0	1	0	12	19				
AOX1	316	broad.mit.edu	37	2	201524011	201524011	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:201524011G>A	ENST00000374700.2	+	28	3536	c.3295G>A	c.(3295-3297)Gta>Ata	p.V1099I	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1099					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.V1099I(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGGTTTGGCAGTAAAGGTAAC	0.498																																						ENST00000374700.2																			1	Substitution - Missense(1)	p.V1099I(1)	pancreas(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3295-3297)Gta>Ata		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						160.0	143.0	149.0					2																	201524011		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201524011G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3295G>A	2.37:g.201524011G>A	ENSP00000363832:p.Val1099Ile					AOX1_ENST00000485106.1_3'UTR	p.V1099I	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			28	3536	+			1099					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3295G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123272	0.77436	.	.	ENSG00000138356	ENST00000374700	T	0.43688	0.94	5.15	3.27	0.37495	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.059207	0.64402	N	0.000003	T	0.58680	0.2139	M	0.79343	2.45	0.58432	D	0.999999	P	0.40000	0.698	P	0.55508	0.777	T	0.61108	-0.7129	10	0.51188	T	0.08	-43.9851	10.8169	0.46583	0.0715:0.1306:0.7979:0.0	.	1099	Q06278	ADO_HUMAN	I	1099	ENSP00000363832:V1099I	ENSP00000363832:V1099I	V	+	1	0	AOX1	201232256	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.671000	0.54576	1.405000	0.46838	-0.258000	0.10820	GTA		0.498	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	132	0	0	0	1	0	4	132				
KEL	3792	broad.mit.edu	37	7	142658506	142658506	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr7:142658506A>C	ENST00000355265.2	-	3	638	c.164T>G	c.(163-165)tTg>tGg	p.L55W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	55					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCAGGCCCAAAATCAGGAT	0.567																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(163-165)tTg>tGg		Kell blood group, metallo-endopeptidase							47.0	45.0	46.0					7																	142658506		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658506A>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.164T>G	7.37:g.142658506A>C	ENSP00000347409:p.Leu55Trp					KEL_ENST00000479768.2_5'UTR	p.L55W	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			3	638	-	Melanoma(164;0.059)		55					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.164T>G	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.12|15.12	2.739383|2.739383	0.49045|0.49045	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000460479|ENST00000355265;ENST00000476829;ENST00000467543	.|D;T;D	.|0.87887	.|-1.93;0.51;-2.31	4.41|4.41	3.24|3.24	0.37175|0.37175	.|.	.|1.370480	.|0.04983	.|N	.|0.465969	T|T	0.81870|0.81870	0.4914|0.4914	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P	.|0.46327	.|0.876	.|B	.|0.43360	.|0.417	T|T	0.70868|0.70868	-0.4755|-0.4755	5|10	.|0.62326	.|D	.|0.03	-12.3088|-12.3088	7.7121|7.7121	0.28684|0.28684	0.7734:0.2266:0.0:0.0|0.7734:0.2266:0.0:0.0	.|.	.|55	.|P23276	.|KELL_HUMAN	L|W	65|55;55;36	.|ENSP00000347409:L55W;ENSP00000419889:L55W;ENSP00000420011:L36W	.|ENSP00000347409:L55W	F|L	-|-	3|2	2|0	KEL|KEL	142368628|142368628	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.864000|0.864000	0.27926|0.27926	0.734000|0.734000	0.32515|0.32515	0.529000|0.529000	0.55759|0.55759	TTT|TTG		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		14	12	0	0	0	1	0	14	12				
CNOT6L	246175	broad.mit.edu	37	4	78665985	78665985	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:78665985C>T	ENST00000504123.1	-	7	734	c.604G>A	c.(604-606)Gct>Act	p.A202T	CNOT6L_ENST00000506166.1_Intron|CNOT6L_ENST00000264903.4_Missense_Mutation_p.A202T			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	202	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCCGGGTAGCGTATTTATCA	0.393																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(604-606)Gct>Act		CCR4-NOT transcription complex, subunit 6-like							71.0	65.0	67.0					4																	78665985		1947	4154	6101	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78665985C>T	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.604G>A	4.37:g.78665985C>T	ENSP00000424896:p.Ala202Thr					CNOT6L_ENST00000506166.1_Intron|CNOT6L_ENST00000264903.4_Missense_Mutation_p.A202T	p.A202T			Q96LI5	CNO6L_HUMAN			7	734	-			202					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.604G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.575657|5.575657	0.96553|0.96553	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485|ENST00000515506	T;T;T|.	0.40476|.	1.03;1.03;1.16|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Endonuclease/exonuclease/phosphatase (2);|.	0.049510|.	0.85682|.	D|.	0.000000|.	D|D	0.85057|0.85057	0.5610|0.5610	M|M	0.89658|0.89658	3.05|3.05	0.80722|0.80722	D|D	1|1	D;P|.	0.69078|.	0.997;0.95|.	P;P|.	0.58331|.	0.837;0.564|.	D|D	0.87576|0.87576	0.2481|0.2481	10|5	0.52906|.	T|.	0.07|.	-6.0694|-6.0694	19.0165|19.0165	0.92897|0.92897	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	175;202|.	Q96LI5-2;Q96LI5|.	.;CNO6L_HUMAN|.	T|H	202;202;209|230	ENSP00000424896:A202T;ENSP00000264903:A202T;ENSP00000425571:A209T|.	ENSP00000264903:A202T|.	A|R	-|-	1|2	0|0	CNOT6L|CNOT6L	78885009|78885009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.792000|7.792000	0.85828|0.85828	2.584000|2.584000	0.87258|0.87258	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.393	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			13	13	0	0	0	1	0	13	13				
NOTCH2	4853	broad.mit.edu	37	1	120510154	120510154	+	Missense_Mutation	SNP	C	C	T	rs587595062		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:120510154C>T	ENST00000256646.2	-	8	1574	c.1355G>A	c.(1354-1356)cGt>cAt	p.R452H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	452	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCTCACAACGAGGTCCTGC	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		20444	0.0		0.0	False		,,,				2504	0.001					ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1354-1356)cGt>cAt		notch 2							189.0	156.0	167.0					1																	120510154		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510154C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1355G>A	1.37:g.120510154C>T	ENSP00000256646:p.Arg452His						p.R452H	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1574	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	452			EGF-like 11; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1355G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278331	0.95459	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.94092	-3.35	5.68	5.68	0.88126	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.35970	U	0.002869	D	0.94162	0.8127	L	0.38838	1.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.996;0.999	D	0.93672	0.6991	10	0.44086	T	0.13	.	18.7702	0.91888	0.0:1.0:0.0:0.0	.	413;452;452	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	H	452;413	ENSP00000256646:R452H	ENSP00000256646:R452H	R	-	2	0	NOTCH2	120311677	1.000000	0.71417	0.977000	0.42913	0.909000	0.53808	7.487000	0.81328	2.672000	0.90937	0.650000	0.86243	CGT		0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	111	0	0	0	1	0	10	111				
EVI2B	2124	broad.mit.edu	37	17	29631309	29631309	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:29631309A>T	ENST00000330927.4	-	2	1473	c.1319T>A	c.(1318-1320)cTg>cAg	p.L440Q	EVI2B_ENST00000544462.1_Missense_Mutation_p.L455Q|EVI2B_ENST00000577894.1_Missense_Mutation_p.L440Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	440						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TGGAGGTGGCAGGGATTCATT	0.363																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(1318-1320)cTg>cAg		ecotropic viral integration site 2B							89.0	88.0	89.0					17																	29631309		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631309A>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.1319T>A	17.37:g.29631309A>T	ENSP00000333779:p.Leu440Gln					EVI2B_ENST00000544462.1_Missense_Mutation_p.L455Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L440Q	p.L440Q	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	1473	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	440					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.1319T>A	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959394	0.74016	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.65364	-0.14;-0.15	5.63	5.63	0.86233	.	0.000000	0.37483	N	0.002061	T	0.70211	0.3198	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73225	-0.4050	10	0.87932	D	0	-3.4078	12.225	0.54455	1.0:0.0:0.0:0.0	.	455;440	B7Z4A7;P34910	.;EVI2B_HUMAN	Q	440;455	ENSP00000333779:L440Q;ENSP00000439738:L455Q	ENSP00000333779:L440Q	L	-	2	0	EVI2B	26655435	0.999000	0.42202	0.997000	0.53966	0.970000	0.65996	4.977000	0.63792	2.145000	0.66743	0.528000	0.53228	CTG		0.363	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		3	64	0	0	0	1	0	3	64				
SLIT1	6585	broad.mit.edu	37	10	98819232	98819232	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr10:98819232C>T	ENST00000266058.4	-	11	1315	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SLIT1_ENST00000371041.3_Missense_Mutation_p.R357H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R357H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	357					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCAGGGAGCGGAGGCCCTG	0.622																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1069-1071)cGc>cAc		slit homolog 1 (Drosophila)							86.0	78.0	81.0					10																	98819232		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98819232C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1070G>A	10.37:g.98819232C>T	ENSP00000266058:p.Arg357His					SLIT1_ENST00000371041.3_Missense_Mutation_p.R357H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R357H	p.R357H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	11	1315	-		Colorectal(252;0.162)	357					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1070G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649110	0.87958	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.59638	0.45;0.45;0.45;0.25	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	L	0.55834	1.745	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.74137	-0.3762	10	0.72032	D	0.01	.	14.9576	0.71127	0.1433:0.8567:0.0:0.0	.	367;357	E7EWQ8;O75093	.;SLIT1_HUMAN	H	357;367;333;357;350;333;357	ENSP00000266058:R357H;ENSP00000360109:R357H;ENSP00000315005:R350H;ENSP00000360080:R357H	ENSP00000266058:R357H	R	-	2	0	SLIT1	98809222	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.485000	0.60279	2.385000	0.81259	0.561000	0.74099	CGC		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		19	53	0	0	0	1	0	19	53				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	61	0	0	0	1	0	34	61				
RNF43	54894	broad.mit.edu	37	17	56435582	56435582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:56435582G>A	ENST00000584437.1	-	8	3510	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	RNF43_ENST00000407977.2_Nonsense_Mutation_p.R519*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R478*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R478*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R519*|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	519					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCCACTCGCTGGGGATCC	0.592																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1555-1557)Cga>Tga		ring finger protein 43							89.0	85.0	87.0					17																	56435582		2203	4300	6503	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435582G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1555C>T	17.37:g.56435582G>A	ENSP00000463069:p.Arg519*					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R478*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R519*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R519*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R478*	p.R519*			Q68DV7	RNF43_HUMAN			8	3510	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		519					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.1555C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876427	0.97904	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	3.73	-3.41	0.04839	.	0.735547	0.12440	N	0.468721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-9.4689	11.6545	0.51309	0.0:0.2965:0.6143:0.0892	.	.	.	.	X	519;478	.	ENSP00000385328:R519X	R	-	1	2	RNF43	53790581	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.620000	0.05565	-0.501000	0.06605	0.174000	0.16983	CGA		0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		62	72	0	0	0	1	0	62	72				
ZNF667	63934	broad.mit.edu	37	19	56953384	56953384	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:56953384T>C	ENST00000504904.3	-	7	1699	c.980A>G	c.(979-981)gAg>gGg	p.E327G	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.E455G|ZNF667_ENST00000292069.6_Missense_Mutation_p.E327G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAAAGGATTCTCTAAATGGTG	0.373																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(979-981)gAg>gGg		zinc finger protein 667							98.0	102.0	101.0					19																	56953384		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953384T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.980A>G	19.37:g.56953384T>C	ENSP00000439402:p.Glu327Gly					ZNF667_ENST00000292069.6_Missense_Mutation_p.E327G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.E455G	p.E327G			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1699	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	327					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.980A>G	CCDS12944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.73|12.73	2.024518|2.024518	0.35701|0.35701	.|.	.|.	ENSG00000198046|ENSG00000198046	ENST00000360227|ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	.|T;T;T	.|0.06142	.|3.34;3.39;3.39	4.88|4.88	2.69|2.69	0.31865|0.31865	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.153499	.|0.30311	.|N	.|0.009903	.|T	.|0.10852	.|0.0265	M|M	0.83223|0.83223	2.63|2.63	0.30623|0.30623	N|N	0.758284|0.758284	.|B;B	.|0.33477	.|0.413;0.056	.|B;B	.|0.36186	.|0.219;0.067	.|T	.|0.03443	.|-1.1036	.|10	.|0.72032	.|D	.|0.01	.|-8.4833	6.1944|6.1944	0.20542|0.20542	0.0:0.0882:0.1609:0.7509|0.0:0.0882:0.1609:0.7509	.|.	.|455;327	.|E7EPS0;Q5HYK9	.|.;ZN667_HUMAN	.|G	-1|455;327;327;109	.|ENSP00000344699:E455G;ENSP00000439402:E327G;ENSP00000292069:E327G	.|ENSP00000292069:E327G	.|E	-|-	.|2	.|0	ZNF667|ZNF667	61645196|61645196	1.000000|1.000000	0.71417|0.71417	0.761000|0.761000	0.31378|0.31378	0.754000|0.754000	0.42855|0.42855	3.564000|3.564000	0.53791|0.53791	0.895000|0.895000	0.36342|0.36342	0.383000|0.383000	0.25322|0.25322	.|GAG		0.373	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		8	119	0	0	0	1	0	8	119				
ADRA1B	147	broad.mit.edu	37	5	159344767	159344767	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr5:159344767G>T	ENST00000306675.3	+	1	978	c.855G>T	c.(853-855)aaG>aaT	p.K285N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	285					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	AACTTTTTAAGTTCTCCAGGG	0.498																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(853-855)aaG>aaT		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						98.0	99.0	98.0					5																	159344767		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344767G>T	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.855G>T	5.37:g.159344767G>T	ENSP00000306662:p.Lys285Asn						p.K285N	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	978	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	285					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.855G>T	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708521	0.48517	.	.	ENSG00000170214	ENST00000306675	D	0.84146	-1.81	5.93	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	M	0.69248	2.105	0.42288	D	0.992126	D	0.89917	1.0	D	0.85130	0.997	D	0.89140	0.3516	10	0.87932	D	0	.	8.2508	0.31717	0.2481:0.0:0.7519:0.0	.	285	P35368	ADA1B_HUMAN	N	285	ENSP00000306662:K285N	ENSP00000306662:K285N	K	+	3	2	ADRA1B	159277345	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.506000	0.22658	0.821000	0.34540	0.655000	0.94253	AAG		0.498	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			43	48	1	0	2.61675e-31	1	2.85464e-31	43	48				
EPPK1	83481	broad.mit.edu	37	8	144946590	144946590	+	Missense_Mutation	SNP	G	G	A	rs377622455		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:144946590G>A	ENST00000525985.1	-	2	903	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W				P58107	EPIPL_HUMAN	epiplakin 1	278						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTAGCGCCGCACCTCGGCA	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(832-834)Cgg>Tgg		epiplakin 1		G	TRP/ARG	2,4340		0,2,2169	19.0	23.0	21.0		832	1.9	0.1	8		21	0,8506		0,0,4253	no	missense	EPPK1	NM_031308.1	101	0,2,6422	AA,AG,GG		0.0,0.0461,0.0156	probably-damaging	278/2420	144946590	2,12846	2171	4253	6424	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946590G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.832C>T	8.37:g.144946590G>A	ENSP00000436337:p.Arg278Trp						p.R278W			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	903	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		278					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.832C>T		.	.	.	.	.	.	.	.	.	.	G	10.42	1.346285	0.24426	4.61E-4	0.0	ENSG00000227184	ENST00000525985	T	0.69435	-0.4	4.81	1.89	0.25635	.	.	.	.	.	T	0.61311	0.2337	L	0.52011	1.625	0.09310	N	1	D	0.69078	0.997	P	0.44477	0.451	T	0.51325	-0.8720	9	0.35671	T	0.21	.	12.055	0.53529	0.0:0.0:0.3651:0.6349	.	278	E9PPU0	.	W	278	ENSP00000436337:R278W	ENSP00000436337:R278W	R	-	1	2	EPPK1	145018578	0.000000	0.05858	0.064000	0.19789	0.079000	0.17450	-0.001000	0.12947	0.181000	0.19994	0.511000	0.50034	CGG		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	20	0	0	0	1	0	3	20				
MPND	84954	broad.mit.edu	37	19	4357346	4357346	+	Missense_Mutation	SNP	G	G	A	rs61730129	byFrequency	TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:4357346G>A	ENST00000262966.8	+	9	1160	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	MPND_ENST00000359935.4_Missense_Mutation_p.A315T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000599840.1_Missense_Mutation_p.A365T	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	365	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16087	0.0		0.0	False		,,,				2504	0.0					ENST00000599840.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(1093-1095)Gca>Aca		MPN domain containing		G	THR/ALA,THR/ALA	17,4019		0,17,2001	22.0	24.0	23.0		943,1093	-4.9	0.0	19	dbSNP_129	23	1,8365		0,1,4182	yes	missense,missense	MPND	NM_001159846.1,NM_032868.4	58,58	0,18,6183	AA,AG,GG		0.012,0.4212,0.1451	benign,benign	315/452,365/472	4357346	18,12384	2018	4183	6201	SO:0001583	missense	84954						peptidase activity	g.chr19:4357346G>A		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1093G>A	19.37:g.4357346G>A	ENSP00000262966:p.Ala365Thr					MPND_ENST00000262966.8_Missense_Mutation_p.A365T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.A315T	p.A365T			Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1128	+			365			MPN.		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.1093G>A	CCDS42470.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	N	0.170	-1.072349	0.01918	0.004212	1.2E-4	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.43294	0.95;0.95	3.67	-4.9	0.03094	.	0.547987	0.18785	N	0.131202	T	0.11196	0.0273	N	0.04669	-0.19	0.09310	N	1	B;B;B	0.29188	0.236;0.137;0.147	B;B;B	0.22753	0.016;0.041;0.029	T	0.36040	-0.9764	10	0.05833	T	0.94	-2.8931	4.9433	0.13976	0.4547:0.0:0.4064:0.1388	.	315;365;365	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	T	365;315	ENSP00000262966:A365T;ENSP00000353015:A315T	ENSP00000262966:A365T	A	+	1	0	MPND	4308346	0.014000	0.17966	0.006000	0.13384	0.254000	0.26022	0.231000	0.17872	-0.982000	0.03515	-0.448000	0.05591	GCA		0.672	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		3	48	0	0	0	1	0	3	48				
ATRX	546	broad.mit.edu	37	X	76849221	76849221	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:76849221T>C	ENST00000373344.5	-	26	6269	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2019	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTACCATTTTCCCAGAATGC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6055-6057)Aaa>Gaa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						74.0	70.0	72.0					X																	76849221		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76849221T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6055A>G	X.37:g.76849221T>C	ENSP00000362441:p.Lys2019Glu					ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E|ATRX_ENST00000480283.1_5'UTR	p.K2019E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			26	6269	-			2019					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6055A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558756	0.65538	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.96396	-4.0;-4.0	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.98049	0.9357	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.989	D	0.98965	1.0799	10	0.87932	D	0	-13.5885	14.5755	0.68243	0.0:0.0:0.0:1.0	.	1981;2019	P46100-4;P46100	.;ATRX_HUMAN	E	2019;1981	ENSP00000362441:K2019E;ENSP00000378967:K1981E	ENSP00000362441:K2019E	K	-	1	0	ATRX	76735877	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.646000	0.83445	1.823000	0.53134	0.430000	0.28490	AAA		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	9	0	0	0	1	0	44	9				
MATK	4145	broad.mit.edu	37	19	3779721	3779721	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:3779721A>C	ENST00000310132.6	-	9	1215	c.817T>G	c.(817-819)Ttc>Gtc	p.F273V	MATK_ENST00000585778.1_Missense_Mutation_p.F273V|MATK_ENST00000395040.2_Missense_Mutation_p.F232V|MATK_ENST00000395045.2_Missense_Mutation_p.F274V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		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)		TCGTCCAGGAAGGCCTGGGCT	0.687																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(817-819)Ttc>Gtc		megakaryocyte-associated tyrosine kinase							64.0	62.0	62.0					19																	3779721		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779721A>C	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.817T>G	19.37:g.3779721A>C	ENSP00000308734:p.Phe273Val					MATK_ENST00000585778.1_Missense_Mutation_p.F273V|MATK_ENST00000395040.2_Missense_Mutation_p.F232V|MATK_ENST00000395045.2_Missense_Mutation_p.F274V	p.F273V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1215	-		Hepatocellular(1079;0.137)	273			Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.817T>G	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173087	0.57584	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.84730	-1.89;-1.89;-1.89	4.07	4.07	0.47477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.92489	0.7615	M	0.86343	2.81	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.966;1.0	D	0.93517	0.6858	10	0.87932	D	0	-26.6718	12.5364	0.56144	1.0:0.0:0.0:0.0	.	273;274;273	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	V	274;273;232	ENSP00000378485:F274V;ENSP00000308734:F273V;ENSP00000378481:F232V	ENSP00000308734:F273V	F	-	1	0	MATK	3730721	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	8.648000	0.91062	1.629000	0.50426	0.254000	0.18369	TTC		0.687	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		43	63	0	0	0	1	0	43	63				
PI3	5266	broad.mit.edu	37	20	43804672	43804672	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:43804672G>C	ENST00000243924.3	+	2	297	c.250G>C	c.(250-252)Gcc>Ccc	p.A84P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	84	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512																																						ENST00000243924.3																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(250-252)Gcc>Ccc		peptidase inhibitor 3, skin-derived							127.0	111.0	117.0					20																	43804672		2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804672G>C	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.250G>C	20.37:g.43804672G>C	ENSP00000243924:p.Ala84Pro						p.A84P	NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			2	297	+		Myeloproliferative disorder(115;0.0122)	84			WAP.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.250G>C	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969213	0.18659	.	.	ENSG00000124102	ENST00000243924	T	0.71817	-0.6	4.23	0.985	0.19779	Whey acidic protein, 4-disulphide core (5);	0.340802	0.21535	N	0.072998	T	0.49660	0.1570	N	0.21324	0.655	0.09310	N	1	B	0.24368	0.102	B	0.30179	0.112	T	0.27938	-1.0059	10	0.27082	T	0.32	.	2.9748	0.05934	0.1042:0.1768:0.537:0.182	.	84	P19957	ELAF_HUMAN	P	84	ENSP00000243924:A84P	ENSP00000243924:A84P	A	+	1	0	PI3	43238086	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.443000	0.06862	0.115000	0.18071	0.650000	0.86243	GCC		0.512	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		29	55	0	0	0	1	0	29	55				
MOB3A	126308	broad.mit.edu	37	19	2076843	2076843	+	Silent	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:2076843G>A	ENST00000357066.3	-	4	970	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MOB3A_ENST00000592280.1_Silent_p.F197F|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	197						intracellular (GO:0005622)	metal ion binding (GO:0046872)										CGATGAGGCCGAACTCCTTGA	0.622																																						ENST00000357066.3																			0											c.(589-591)ttC>ttT		MOB kinase activator 3A							80.0	68.0	72.0					19																	2076843		2203	4300	6503	SO:0001819	synonymous_variant	126308					intracellular	metal ion binding	g.chr19:2076843G>A	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.591C>T	19.37:g.2076843G>A						MOB3A_ENST00000592280.1_Silent_p.F197F|MOB3A_ENST00000592143.1_Intron	p.F197F	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			4	970	-			197					B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	c.591C>T	CCDS12081.1																																																																																				0.622	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		22	28	0	0	0	1	0	22	28				
MIA3	375056	broad.mit.edu	37	1	222828024	222828024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:222828024G>A	ENST00000344922.5	+	18	4521	c.4496G>A	c.(4495-4497)cGc>cAc	p.R1499H	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.R1499H|MIA3_ENST00000340535.7_Missense_Mutation_p.R377H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1499					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAGATGACCGCAACTCACTA	0.448																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4495-4497)cGc>cAc		melanoma inhibitory activity family, member 3							85.0	81.0	82.0					1																	222828024		1944	4144	6088	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222828024G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4496G>A	1.37:g.222828024G>A	ENSP00000340900:p.Arg1499His					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R377H|MIA3_ENST00000344441.6_Missense_Mutation_p.R1499H	p.R1499H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	18	4521	+			1499					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4496G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194151	0.58017	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.42900	0.97;0.97;0.96	5.32	2.25	0.28309	.	.	.	.	.	T	0.37598	0.1009	N	0.22421	0.69	0.09310	N	1	D;D	0.76494	0.994;0.999	P;P	0.60236	0.729;0.871	T	0.17379	-1.0371	9	0.14252	T	0.57	.	5.7201	0.17982	0.0851:0.1989:0.6032:0.1128	.	377;1499	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	H	1499;1499;1440;377;377	ENSP00000340900:R1499H;ENSP00000340587:R1499H;ENSP00000345866:R377H	ENSP00000284471:R377H	R	+	2	0	MIA3	220894647	0.002000	0.14202	0.015000	0.15790	0.809000	0.45718	1.373000	0.34272	1.360000	0.45960	0.655000	0.94253	CGC		0.448	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		3	72	0	0	0	1	0	3	72				
ABCC11	85320	broad.mit.edu	37	16	48211013	48211013	+	Silent	SNP	C	C	T	rs552190839		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr16:48211013C>T	ENST00000394747.1	-	24	3709	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.S1120S|ABCC11_ENST00000356608.2_Silent_p.S1120S|ABCC11_ENST00000394748.1_Silent_p.S1120S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1120					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGGAGCTTCCGAGACACACA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21293	0.0		0.0	False		,,,				2504	0.0					ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3358-3360)tcG>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							113.0	105.0	107.0					16																	48211013		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48211013C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3360G>A	16.37:g.48211013C>T						ABCC11_ENST00000353782.5_Silent_p.S1120S|ABCC11_ENST00000356608.2_Silent_p.S1120S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.S1120S	p.S1120S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			24	3709	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1120					Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3360G>A	CCDS10732.1																																																																																				0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		14	27	0	0	0	1	0	14	27				
SLC30A2	7780	broad.mit.edu	37	1	26371545	26371545	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:26371545G>A	ENST00000374278.3	-	2	430	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C|SLC30A2_ENST00000498060.1_5'UTR	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	72					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.R72C(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGCTGGCGCTGGGCCTTC	0.532																																						ENST00000374278.3																			1	Substitution - Missense(1)	p.R72C(1)	lung(1)	cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13						c.(214-216)Cgc>Tgc		solute carrier family 30 (zinc transporter), member 2							140.0	137.0	138.0					1																	26371545		2203	4300	6503	SO:0001583	missense	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371545G>A	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.214C>T	1.37:g.26371545G>A	ENSP00000363396:p.Arg72Cys					SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C	p.R72C	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	430	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	72					Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	c.214C>T	CCDS272.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549061	0.86127	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.68025	-0.3;-0.3	5.73	3.81	0.43845	.	0.081519	0.52532	D	0.000073	T	0.76521	0.3999	M	0.68593	2.085	0.80722	D	1	D;D	0.62365	0.991;0.978	P;P	0.58077	0.75;0.832	T	0.79186	-0.1907	10	0.87932	D	0	-15.4878	14.9558	0.71113	0.0:0.0:0.8057:0.1943	.	72;72	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	C	72	ENSP00000363396:R72C;ENSP00000363394:R72C	ENSP00000363394:R72C	R	-	1	0	SLC30A2	26244132	0.962000	0.33011	0.995000	0.50966	0.851000	0.48451	1.625000	0.37029	0.720000	0.32209	0.655000	0.94253	CGC		0.532	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		91	115	0	0	0	1	0	91	115				
XCL1	6375	broad.mit.edu	37	1	168550354	168550354	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:168550354G>A	ENST00000367818.3	+	3	406	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	81					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGAGACGTGGTCAGGAGCAT	0.483																																						ENST00000367818.3																			0				kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10						c.(241-243)Gtc>Atc		chemokine (C motif) ligand 1							209.0	189.0	196.0					1																	168550354		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168550354G>A	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.241G>A	1.37:g.168550354G>A	ENSP00000356792:p.Val81Ile						p.V81I	NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN			3	406	+	all_hematologic(923;0.208)		81					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.241G>A	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	G	0.234	-1.018733	0.02078	.	.	ENSG00000143184	ENST00000367818	T	0.03860	3.78	4.83	-2.56	0.06268	Chemokine interleukin-8-like domain (3);	0.836448	0.10746	N	0.638859	T	0.00580	0.0019	N	0.05078	-0.115	0.24240	N	0.995364	B	0.23442	0.085	B	0.23574	0.047	T	0.44112	-0.9349	9	0.02654	T	1	-12.6962	10.178	0.42950	0.7398:0.0:0.2602:0.0	.	81	P47992	XCL1_HUMAN	I	81	ENSP00000356792:V81I	ENSP00000356792:V81I	V	+	1	0	XCL1	166816978	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.026000	0.12392	-0.345000	0.08325	-0.140000	0.14226	GTC		0.483	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		21	40	0	0	0	1	0	21	40				
MARCH10	162333	broad.mit.edu	37	17	60879010	60879010	+	Silent	SNP	A	A	G			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:60879010A>G	ENST00000311269.5	-	2	361	c.87T>C	c.(85-87)taT>taC	p.Y29Y	MARCH10_ENST00000544856.2_Silent_p.Y29Y|MARCH10_ENST00000583600.1_Silent_p.Y29Y|MARCH10_ENST00000456609.2_Silent_p.Y29Y	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	29					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAATTACCTGATACTCAGAGT	0.428																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(85-87)taT>taC		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							180.0	137.0	152.0					17																	60879010		2203	4300	6503	SO:0001819	synonymous_variant	162333						ligase activity|zinc ion binding	g.chr17:60879010A>G	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.87T>C	17.37:g.60879010A>G						MARCH10_ENST00000583600.1_Silent_p.Y29Y|MARCH10_ENST00000311269.5_Silent_p.Y29Y|MARCH10_ENST00000456609.2_Silent_p.Y29Y	p.Y29Y			Q8NA82	MARHA_HUMAN			3	465	-			29					D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	c.87T>C	CCDS11635.1																																																																																				0.428	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		19	137	0	0	0	1	0	19	137				
KCNB2	9312	broad.mit.edu	37	8	73848875	73848875	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:73848875C>T	ENST00000523207.1	+	3	1873	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGAGCAGAAACGCCAAGAGAA	0.438																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1285-1287)Cgc>Tgc		potassium voltage-gated channel, Shab-related subfamily, member 2							61.0	65.0	64.0					8																	73848875		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848875C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1285C>T	8.37:g.73848875C>T	ENSP00000430846:p.Arg429Cys						p.R429C	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1873	+	Breast(64;0.137)		429					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1285C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234429	0.58886	.	.	ENSG00000182674	ENST00000523207	D	0.97598	-4.45	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000294	D	0.98083	0.9368	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98727	1.0711	10	0.87932	D	0	.	15.3411	0.74296	0.1482:0.8518:0.0:0.0	.	429	Q92953	KCNB2_HUMAN	C	429	ENSP00000430846:R429C	ENSP00000430846:R429C	R	+	1	0	KCNB2	74011429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.090000	0.57693	2.633000	0.89246	0.563000	0.77884	CGC		0.438	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		4	56	0	0	0	1	0	4	56				
ZNF749	388567	broad.mit.edu	37	19	57956845	57956845	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:57956845A>G	ENST00000334181.4	+	3	2579	c.2329A>G	c.(2329-2331)Agg>Ggg	p.R777G	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TACTGGAAAAAGGCCTTAGTG	0.393																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2329-2331)Agg>Ggg		zinc finger protein 749							73.0	78.0	76.0					19																	57956845		2201	4298	6499	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956845A>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2329A>G	19.37:g.57956845A>G	ENSP00000333980:p.Arg777Gly					AC004076.9_ENST00000596831.1_Intron	p.R777G	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2579	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	777						Missense_Mutation	SNP	ENST00000334181.4	37	c.2329A>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	8.701	0.909743	0.17833	.	.	ENSG00000186230	ENST00000334181	T	0.01887	4.58	1.52	0.455	0.16649	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04679	0.0127	M	0.87038	2.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28618	-1.0038	9	0.87932	D	0	.	4.9118	0.13825	0.6602:0.0:0.3398:0.0	.	777	O43361	ZN749_HUMAN	G	777	ENSP00000333980:R777G	ENSP00000333980:R777G	R	+	1	2	ZNF749	62648657	0.042000	0.20092	0.001000	0.08648	0.007000	0.05969	1.906000	0.39887	0.067000	0.16545	0.172000	0.16884	AGG		0.393	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		3	97	0	0	0	1	0	3	97				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	4	1	0	0.0784	1	0.08064	2	4				
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTACACATGTAGTTGTAGTG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004907	TP53	M		c.(706-708)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							126.0	100.0	109.0					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577574T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C	p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	839	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		66	17	0	0	0	1	0	66	17				
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		9	135						9	135	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33690253	33690273	+	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	GGTCAGCAGGATCCGAGTTTG	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG	ENST00000394566.1	-	4	826_846	c.554_574delCAAACTCGGATCCTGCTGACC	c.(553-576)ccaaactcggatcctgctgaccta>cta	p.PNSDPAD185del	SLFN11_ENST00000308377.4_In_Frame_Del_p.PNSDPAD185del	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	185					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.S187S(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAAAATTAGGTCAGCAGGATCCGAGTTTGGGTCAGCAGG	0.412																																						ENST00000394566.1																			1	Substitution - coding silent(1)	p.S187S(1)	kidney(1)	autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(553-576)cta>c		schlafen family member 11																																				SO:0001651	inframe_deletion	91607					nucleus	ATP binding	g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.554_574delCAAACTCGGATCCTGCTGACC	17.37:g.33690253_33690273delGGTCAGCAGGATCCGAGTTTG	ENSP00000378067:p.Pro185_Asp191del					SLFN11_ENST00000308377.4_In_Frame_Del_p.PNSDPADL185del	p.PNSDPADL185del	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	826_846	-		Ovarian(249;0.17)	185					E1P643|Q8N3S8|Q8N762|Q8TEE0	In_Frame_Del	DEL	ENST00000394566.1	37	c.554_574delCAAACTCGGATCCTGCTGACC	CCDS11294.1																																																																																				0.412	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		20	134						20	134	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		7	50						7	50	---	---	---	---
TBC1D17	79735	broad.mit.edu	37	19	50387777	50387777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:50387777delG	ENST00000221543.5	+	12	1604	c.1305delG	c.(1303-1305)gtgfs	p.V435fs	TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.V402fs	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	435	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACGAGGTGGATGCTTTCT	0.597																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1303-1305)gtfs		TBC1 domain family, member 17							191.0	187.0	189.0					19																	50387777		2203	4300	6503	SO:0001589	frameshift_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50387777delG	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1305delG	19.37:g.50387777delG	ENSP00000221543:p.Val435fs					TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.V402fs	p.V435fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	12	1604	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	435			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Frame_Shift_Del	DEL	ENST00000221543.5	37	c.1305delG	CCDS12785.1																																																																																				0.597	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		40	113						40	113	---	---	---	---
MAPK8IP2	23542	broad.mit.edu	37	22	51044326	51044326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr22:51044326delC	ENST00000399908.2	+	6	2006	c.1290delC	c.(1288-1290)cacfs	p.H430fs	MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.H401fs|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.H316fs|MAPK8IP2_ENST00000399912.1_Frame_Shift_Del_p.H430fs|MAPK8IP2_ENST00000329492.3_Frame_Shift_Del_p.H695fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.H418fs	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	696	Necessary for interaction with FGF13.|Pro-rich.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCTGCCACCAGGGCAACG	0.682																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1288-1290)cafs		mitogen-activated protein kinase 8 interacting protein 2							14.0	17.0	16.0					22																	51044326		2094	4218	6312	SO:0001589	frameshift_variant	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51044326delC	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1290delC	22.37:g.51044326delC	ENSP00000382792:p.His430fs					MAPK8IP2_ENST00000329492.3_Frame_Shift_Del_p.H695fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.H418fs|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.H316fs|MAPK8IP2_ENST00000399912.1_Frame_Shift_Del_p.H430fs|MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.H401fs	p.H430fs	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	2006	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	696			Pro-rich.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Frame_Shift_Del	DEL	ENST00000399908.2	37	c.1290delC																																																																																					0.682	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		2	4						2	4	---	---	---	---
