#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
FAM83D	81610	broad.mit.edu	37	20	37580459	37580459	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:37580459G>A	ENST00000217429.4	+	4	1185	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	352					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGATGCCCGCAGAGGGCAA	0.602																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1144-1146)Gca>Aca		family with sequence similarity 83, member D							50.0	56.0	54.0					20																	37580459		2065	4194	6259	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580459G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1144G>A	20.37:g.37580459G>A	ENSP00000217429:p.Ala382Thr						p.A382T	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1185	+		Myeloproliferative disorder(115;0.00878)	352					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1144G>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	6.313	0.425903	0.11987	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12039	2.72	5.7	-7.64	0.01286	.	1.702460	0.02840	N	0.127853	T	0.10809	0.0264	L	0.54323	1.7	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.26121	-1.0112	10	0.30078	T	0.28	.	2.9737	0.05930	0.3429:0.2534:0.3191:0.0847	.	352	Q9H4H8	FA83D_HUMAN	T	382;336	ENSP00000217429:A382T	ENSP00000217429:A382T	A	+	1	0	FAM83D	37013873	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-1.258000	0.02471	-1.224000	0.01588	GCA		0.602	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			3	37	0	0	0	1	0	3	37				
GRIP2	80852	broad.mit.edu	37	3	14536429	14536429	+	RNA	SNP	T	T	C			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr3:14536429T>C	ENST00000273083.3	-	0	2956							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATAGACACCTTTTTCCAGGA	0.612																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							96.0	99.0	98.0					3																	14536429		2047	4183	6230			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14536429T>C	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14536429T>C										Q9C0E4	GRIP2_HUMAN			0	2956	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		3	60	0	0	0	1	0	3	60				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	43	0	0	0	1	0	5	43				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		21	35	0	0	0	1	0	21	35				
CXXC4	80319	broad.mit.edu	37	4	105412355	105412355	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr4:105412355G>C	ENST00000426831.1	-	1	112	c.98C>G	c.(97-99)tCc>tGc	p.S33C	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.S202C|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	33					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GTGTTCAGGGGATAAGGTGGA	0.562																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(604-606)tCc>tGc		CXXC finger protein 4							139.0	153.0	149.0					4																	105412355		2203	4300	6503	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412355G>C		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.98C>G	4.37:g.105412355G>C	ENSP00000412267:p.Ser33Cys					CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.S33C	p.S202C	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1055	-			33						Missense_Mutation	SNP	ENST00000426831.1	37	c.605C>G		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499106	0.44455	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	3.07	3.07	0.35406	.	0.126753	0.49916	D	0.000133	T	0.36991	0.0987	N	0.08118	0	0.45995	D	0.9988	B	0.23442	0.085	B	0.28784	0.094	T	0.33189	-0.9878	9	0.48119	T	0.1	-5.7922	11.3241	0.49438	0.0:0.1858:0.8142:0.0	.	33	Q9H2H0	CXXC4_HUMAN	C	33	.	ENSP00000378248:S33C	S	-	2	0	CXXC4	105631804	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.251000	0.72441	1.747000	0.51819	0.298000	0.19748	TCC		0.562	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		15	208	0	0	0	1	0	15	208				
HERC2P3	283755	broad.mit.edu	37	15	20644024	20644024	+	RNA	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr15:20644024G>A	ENST00000428453.1	-	0	3435							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCGCCATGAGGCCCCCCACT	0.602																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															29.0	23.0	25.0					15																	20644024		2190	4265	6455			283755							g.chr15:20644024G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644024G>A														0	3435	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.602	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		13	19	0	0	0	1	0	13	19				
RFWD3	55159	broad.mit.edu	37	16	74695298	74695298	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr16:74695298G>A	ENST00000361070.4	-	2	147	c.50C>T	c.(49-51)gCc>gTc	p.A17V	RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	17					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGTTGTTCGGCATGATTTAA	0.478																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(49-51)gCc>gTc		ring finger and WD repeat domain 3							126.0	135.0	132.0					16																	74695298		2198	4299	6497	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74695298G>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.50C>T	16.37:g.74695298G>A	ENSP00000354361:p.Ala17Val					RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V	p.A17V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			2	147	-			17					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.50C>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254103	0.22965	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.20200	2.09	4.21	2.21	0.28008	.	3.651800	0.00654	N	0.000564	T	0.15869	0.0382	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.22138	-1.0225	10	0.12430	T	0.62	-13.0752	5.9006	0.18964	0.1042:0.1942:0.7016:0.0	.	17	Q6PCD5	RFWD3_HUMAN	V	17	ENSP00000354361:A17V	ENSP00000354361:A17V	A	-	2	0	RFWD3	73252799	0.003000	0.15002	0.003000	0.11579	0.009000	0.06853	0.414000	0.21164	0.700000	0.31782	0.655000	0.94253	GCC		0.478	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		4	194	0	0	0	1	0	4	194				
DUSP15	128853	broad.mit.edu	37	20	30436706	30436706	+	Splice_Site	SNP	C	C	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:30436706C>A	ENST00000278979.3	-	9	705	c.629G>T	c.(628-630)gGa>gTa	p.G210V				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	210					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGTGACCATCCTGCAGGTGG	0.577																																						ENST00000278979.3																			0				large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7						c.e9-1		dual specificity phosphatase 15							28.0	29.0	29.0					20																	30436706		876	1991	2867	SO:0001630	splice_region_variant	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30436706C>A		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.629-1G>T	20.37:g.30436706C>A							p.G210_splice			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		9	705	-			210					A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Splice_Site	SNP	ENST00000278979.3	37	c.628_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.590|9.590	1.125938|1.125938	0.20959|0.20959	.|.	.|.	ENSG00000149599|ENSG00000149599	ENST00000447647|ENST00000278979	.|D	.|0.95885	.|-3.84	3.6|3.6	0.188|0.188	0.15114|0.15114	.|SMAD/FHA domain (1);	.|.	.|.	.|.	.|.	D|D	0.90352|0.90352	0.6981|0.6981	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.14578	.|0.011	T|T	0.81771|0.81771	-0.0780|-0.0780	4|8	.|0.51188	.|T	.|0.08	.|.	5.2441|5.2441	0.15487|0.15487	0.0:0.3389:0.4458:0.2153|0.0:0.3389:0.4458:0.2153	.|.	.|210	.|Q9H1R2	.|DUS15_HUMAN	Y|V	8|210	.|ENSP00000278979:G210V	.|ENSP00000278979:G210V	D|G	-|-	1|2	0|0	DUSP15|DUSP15	29900367|29900367	0.001000|0.001000	0.12720|0.12720	0.076000|0.076000	0.20297|0.20297	0.039000|0.039000	0.13416|0.13416	0.108000|0.108000	0.15396|0.15396	0.310000|0.310000	0.22990|0.22990	0.462000|0.462000	0.41574|0.41574	GAT|GGA		0.577	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611	Missense_Mutation	8	9	1	0	5.4927e-09	1	5.89957e-09	8	9				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	33	0	0	0	1	0	3	33				
NUDT6	11162	broad.mit.edu	37	4	123843575	123843575	+	Silent	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr4:123843575G>A	ENST00000304430.5	-	1	186	c.153C>T	c.(151-153)gaC>gaT	p.D51D	SPATA5_ENST00000274008.4_5'Flank|NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	51						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCCCGAATCTGTCCAGCTCGC	0.711																																						ENST00000304430.5																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(151-153)gaC>gaT		nudix (nucleoside diphosphate linked moiety X)-type motif 6							20.0	26.0	24.0					4																	123843575		2023	4162	6185	SO:0001819	synonymous_variant	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123843575G>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.153C>T	4.37:g.123843575G>A						NUDT6_ENST00000339154.2_Intron	p.D51D	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN			1	186	-			51					A8K756|O95097|Q9UQD9	Silent	SNP	ENST00000304430.5	37	c.153C>T	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764954	0.31228	.	.	ENSG00000170917	ENST00000510735	.	.	.	4.64	1.83	0.25207	.	.	.	.	.	T	0.55065	0.1897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47262	-0.9131	4	.	.	.	-20.0274	7.3545	0.26711	0.1627:0.1386:0.6987:0.0	.	.	.	.	I	8	.	.	T	-	2	0	NUDT6	124063025	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	2.302000	0.43637	0.543000	0.28864	0.561000	0.74099	ACA		0.711	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		3	15	0	0	0	1	0	3	15				
UGT1A4	54657	broad.mit.edu	37	2	234627834	234627834	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr2:234627834C>T	ENST00000373409.3	+	1	411	c.368C>T	c.(367-369)gCc>gTc	p.A123V	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	123					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	GTATCTTTGGCCCTTCATAGG	0.443																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(367-369)gCc>gTc									211.0	209.0	209.0					2																	234627834		2203	4300	6503	SO:0001583	missense	54657							g.chr2:234627834C>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.368C>T	2.37:g.234627834C>T	ENSP00000362508:p.Ala123Val					UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron	p.A123V	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	411	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.368C>T	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	c	4.608	0.112925	0.08831	.	.	ENSG00000244474	ENST00000373409	T	0.58210	0.35	4.16	0.0178	0.14113	.	.	.	.	.	T	0.22282	0.0537	N	0.04335	-0.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15694	-1.0428	9	0.17832	T	0.49	.	1.9189	0.03303	0.1267:0.1715:0.1309:0.5709	.	123;123	B8K288;P22310	.;UD14_HUMAN	V	123	ENSP00000362508:A123V	ENSP00000362508:A123V	A	+	2	0	UGT1A4	234292573	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.084000	0.03393	-0.714000	0.04975	-1.853000	0.00566	GCC		0.443	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		4	221	0	0	0	1	0	4	221				
ADAM21P1	145241	broad.mit.edu	37	14	70713742	70713742	+	RNA	SNP	G	G	T	rs371307290		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr14:70713742G>T	ENST00000530196.1	-	0	776					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CCACAACAACGAGCTCCAGAA	0.433																																						ENST00000530196.1																			0																																																			145241							g.chr14:70713742G>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713742G>T								NR_003951.1						0	776	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.433	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		5	54	1	0	1.06961e-07	1	1.10781e-07	5	54				
APBB1	322	broad.mit.edu	37	11	6422898	6422898	+	Missense_Mutation	SNP	C	C	T	rs139600801		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr11:6422898C>T	ENST00000609360.1	-	10	1508	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	APBB1_ENST00000529519.1_De_novo_Start_OutOfFrame|APBB1_ENST00000299402.6_Missense_Mutation_p.R468H|APBB1_ENST00000609331.1_Missense_Mutation_p.R235H|APBB1_ENST00000608704.1_Missense_Mutation_p.R211H|APBB1_ENST00000608394.1_Missense_Mutation_p.R211H|APBB1_ENST00000311051.3_Missense_Mutation_p.R468H|APBB1_ENST00000530885.1_Missense_Mutation_p.R248H|APBB1_ENST00000608645.1_Missense_Mutation_p.R211H|APBB1_ENST00000608655.1_Missense_Mutation_p.R250H|APBB1_ENST00000389906.2_Missense_Mutation_p.R470H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	470	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGCTTATCACGAGCTACGTA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20041	0.0		0.001	False		,,,				2504	0.0				GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1408-1410)cGt>cAt		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	170.0	118.0	136.0		1409,1403	4.2	1.0	11	dbSNP_134	136	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense	APBB1	NM_001164.2,NM_145689.1	29,29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	470/711,468/709	6422898	2,12992	2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422898C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1409G>A	11.37:g.6422898C>T	ENSP00000477213:p.Arg470His					APBB1_ENST00000533407.1_Missense_Mutation_p.R209H|APBB1_ENST00000530885.1_Missense_Mutation_p.R248H|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R468H|APBB1_ENST00000299402.6_Missense_Mutation_p.R468H	p.R470H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	9	1508	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	470			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1409G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.38	3.816055	0.70912	0.0	2.33E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000007	T	0.37376	0.1001	M	0.75777	2.31	0.54753	D	0.999984	D;D;D	0.89917	1.0;0.985;0.999	D;P;P	0.87578	0.998;0.613;0.856	T	0.15464	-1.0436	10	0.72032	D	0.01	-4.4975	7.7188	0.28721	0.0:0.8859:0.0:0.1141	.	73;248;468	B7Z4M4;B7Z2Y0;O00213-2	.;.;.	H	468;468;470;319;211;235;248;209	ENSP00000299402:R468H;ENSP00000311912:R468H;ENSP00000374556:R470H;ENSP00000433338:R248H;ENSP00000437114:R209H	ENSP00000299402:R468H	R	-	2	0	APBB1	6379474	0.904000	0.30761	0.962000	0.40283	0.968000	0.65278	7.425000	0.80255	2.137000	0.66172	0.591000	0.81541	CGT		0.597	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		3	48	0	0	0	1	0	3	48				
IQCH	64799	broad.mit.edu	37	15	67677304	67677304	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr15:67677304C>T	ENST00000335894.4	+	11	1469	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	IQCH_ENST00000360277.4_Missense_Mutation_p.A220V|IQCH_ENST00000358767.3_Missense_Mutation_p.A295V|IQCH_ENST00000546225.1_Missense_Mutation_p.A216V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	468										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GAACATATTGCCGATTTCAAC	0.408																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1402-1404)gCc>gTc		IQ motif containing H							322.0	306.0	311.0					15																	67677304		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67677304C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1403C>T	15.37:g.67677304C>T	ENSP00000336861:p.Ala468Val					IQCH_ENST00000360277.4_Missense_Mutation_p.A220V|IQCH_ENST00000358767.3_Missense_Mutation_p.A295V|IQCH_ENST00000546225.1_Missense_Mutation_p.A216V	p.A468V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	11	1469	+			468					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1403C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.264917	0.59431	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.44083	0.93;0.94;0.93;0.93	6.04	-2.79	0.05841	.	1.016690	0.07836	N	0.962207	T	0.20292	0.0488	N	0.16478	0.41	0.09310	N	1	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.12837	0.003;0.003;0.008	T	0.19844	-1.0293	10	0.29301	T	0.29	-14.7469	1.4529	0.02379	0.2765:0.3571:0.1813:0.1851	.	216;220;468	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	V	295;216;468;220	ENSP00000351617:A295V;ENSP00000444118:A216V;ENSP00000336861:A468V;ENSP00000353419:A220V	ENSP00000336861:A468V	A	+	2	0	IQCH	65464358	0.000000	0.05858	0.000000	0.03702	0.917000	0.54804	0.088000	0.14979	-0.333000	0.08476	0.563000	0.77884	GCC		0.408	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		4	170	0	0	0	1	0	4	170				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			2	2	0	0	0	1	0	2	2				
CSTL1	128817	broad.mit.edu	37	20	23420947	23420947	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:23420947G>A	ENST00000246020.2	+	1	63	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000347397.1_Missense_Mutation_p.A15T			Q9H114	CST1L_HUMAN	cystatin-like 1	15						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GCTGCTGATTGCCCTGGTCCT	0.537																																						ENST00000347397.1																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14						c.(43-45)Gcc>Acc		cystatin-like 1							112.0	95.0	101.0					20																	23420947		2203	4300	6503	SO:0001583	missense	128817					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23420947G>A	AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.43G>A	20.37:g.23420947G>A	ENSP00000246020:p.Ala15Thr					CSTL1_ENST00000246020.2_Missense_Mutation_p.A15T|CSTL1_ENST00000472140.1_3'UTR	p.A15T	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN			2	289	+	Colorectal(13;0.0993)|Lung NSC(19;0.235)		15					Q17RA8|Q64FF7	Missense_Mutation	SNP	ENST00000246020.2	37	c.43G>A	CCDS13153.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.554993	0.13436	.	.	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.11712	2.75;2.75	4.33	2.33	0.28932	.	0.584090	0.15544	N	0.256780	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.28082	0.2	B	0.28385	0.089	T	0.41324	-0.9515	10	0.21540	T	0.41	-3.0435	5.1787	0.15148	0.1045:0.0:0.692:0.2035	.	15	Q9H114	CST1L_HUMAN	T	15	ENSP00000344907:A15T;ENSP00000246020:A15T	ENSP00000246020:A15T	A	+	1	0	CSTL1	23368947	0.000000	0.05858	0.004000	0.12327	0.122000	0.20287	-0.078000	0.11375	0.732000	0.32470	0.655000	0.94253	GCC		0.537	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1			17	30	0	0	0	1	0	17	30				
DIDO1	11083	broad.mit.edu	37	20	61511023	61511023	+	Silent	SNP	G	G	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:61511023G>T	ENST00000266070.4	-	16	6610	c.6285C>A	c.(6283-6285)ccC>ccA	p.P2095P	DIDO1_ENST00000395343.1_Silent_p.P2095P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2095					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTTCTCTTTGGGCCCCACGT	0.657																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6283-6285)ccC>ccA		death inducer-obliterator 1							88.0	103.0	98.0					20																	61511023		2185	4264	6449	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511023G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6285C>A	20.37:g.61511023G>T						DIDO1_ENST00000395343.1_Silent_p.P2095P	p.P2095P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6610	-	Breast(26;5.68e-08)		2095					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.6285C>A	CCDS33506.1																																																																																				0.657	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		5	191	1	0	0.0293803	1	0.0293803	5	191				
OR5K1	26339	broad.mit.edu	37	3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A	rs372270718		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19776	0.0		0.0	False		,,,				2504	0.001					ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(160-162)cGg>cAg		olfactory receptor, family 5, subfamily K, member 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	270.0	267.0	268.0		161	-8.0	0.0	3		268	0,8598		0,0,4299	no	missense	OR5K1	NM_001004736.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	54/309	98188581	1,13003	2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188581G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.161G>A	3.37:g.98188581G>A	ENSP00000373193:p.Arg54Gln						p.R54Q	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	258	+			54					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.161G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149967	0.21371	2.27E-4	0.0	ENSG00000232382	ENST00000332650	T	0.00583	6.41	5.18	-7.99	0.01131	GPCR, rhodopsin-like superfamily (1);	1.333180	0.05325	N	0.527211	T	0.00384	0.0012	N	0.25031	0.7	0.09310	N	1	B	0.25850	0.136	B	0.14023	0.01	T	0.44375	-0.9332	10	0.25751	T	0.34	1.2397	4.8465	0.13516	0.5597:0.0968:0.2457:0.0978	.	54	Q8NHB7	OR5K1_HUMAN	Q	54	ENSP00000373193:R54Q	ENSP00000373193:R54Q	R	+	2	0	OR5K1	99671271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.050000	0.01404	-1.476000	0.01874	-3.439000	0.00036	CGG		0.453	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			4	228	0	0	0	1	0	4	228				
ZNF672	79894	broad.mit.edu	37	1	249141581	249141581	+	Silent	SNP	C	C	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr1:249141581C>T	ENST00000306562.3	+	4	854	c.108C>T	c.(106-108)caC>caT	p.H36H		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AACGAGCTCACGGCGGTGACG	0.642																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(106-108)caC>caT		zinc finger protein 672							40.0	33.0	36.0					1																	249141581		2203	4300	6503	SO:0001819	synonymous_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249141581C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.108C>T	1.37:g.249141581C>T							p.H36H	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	854	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	36					Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	37	c.108C>T	CCDS1638.1																																																																																				0.642	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		6	4	0	0	0	1	0	6	4				
CLPTM1L	81037	broad.mit.edu	37	5	1325911	1325911	+	Silent	SNP	T	T	C			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr5:1325911T>C	ENST00000320895.5	-	10	1358	c.1101A>G	c.(1099-1101)gcA>gcG	p.A367A	CLPTM1L_ENST00000507807.1_Silent_p.A198A|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Silent_p.A331A	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	367					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCATCTTCAATGCCTTCTTCA	0.458																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1099-1101)gcA>gcG		CLPTM1-like							114.0	119.0	117.0					5																	1325911		2203	4300	6503	SO:0001819	synonymous_variant	81037				apoptosis	integral to membrane		g.chr5:1325911T>C	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1101A>G	5.37:g.1325911T>C						CLPTM1L_ENST00000507807.1_Silent_p.A198A|CLPTM1L_ENST00000320927.6_Silent_p.A331A|CLPTM1L_ENST00000506641.1_5'UTR	p.A367A	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	10	1358	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		367					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	c.1101A>G	CCDS3862.1																																																																																				0.458	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		45	71	0	0	0	1	0	45	71				
PEX5	5830	broad.mit.edu	37	12	7360370	7360370	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr12:7360370C>T	ENST00000455147.2	+	12	1662	c.1082C>T	c.(1081-1083)gCt>gTt	p.A361V	PEX5_ENST00000266564.3_Missense_Mutation_p.A353V|PEX5_ENST00000266563.5_Missense_Mutation_p.A324V|PEX5_ENST00000420616.2_Missense_Mutation_p.A361V|PEX5_ENST00000434354.2_Missense_Mutation_p.A376V|PEX5_ENST00000412720.2_Missense_Mutation_p.A382V	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	361					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TTTGAGGCAGCTGTGCAGCAG	0.547																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(970-972)gCt>gTt		peroxisomal biogenesis factor 5							126.0	122.0	124.0					12																	7360370		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7360370C>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1082C>T	12.37:g.7360370C>T	ENSP00000400647:p.Ala361Val					PEX5_ENST00000420616.2_Missense_Mutation_p.A361V|PEX5_ENST00000455147.2_Missense_Mutation_p.A361V|PEX5_ENST00000434354.2_Missense_Mutation_p.A376V|PEX5_ENST00000266564.3_Missense_Mutation_p.A353V|PEX5_ENST00000412720.2_Missense_Mutation_p.A382V	p.A324V	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			10	1154	+			361					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.971C>T	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066753	0.93898	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.051122	0.85682	D	0.000000	D	0.86079	0.5847	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D	0.89917	0.978;1.0;1.0;0.98;0.99	B;P;D;P;P	0.67231	0.421;0.891;0.95;0.657;0.657	D	0.87909	0.2696	10	0.87932	D	0	.	18.3744	0.90431	0.0:1.0:0.0:0.0	.	382;376;361;353;324	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	V	361;324;376;361;382;331;353	ENSP00000400647:A361V;ENSP00000266563:A324V;ENSP00000407401:A376V;ENSP00000410159:A361V;ENSP00000391601:A382V;ENSP00000379877:A331V;ENSP00000266564:A353V	ENSP00000266563:A324V	A	+	2	0	PEX5	7251637	1.000000	0.71417	0.569000	0.28460	0.997000	0.91878	5.810000	0.69179	2.572000	0.86782	0.491000	0.48974	GCT		0.547	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		10	83	0	0	0	1	0	10	83				
APC2	10297	broad.mit.edu	37	19	1453055	1453055	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr19:1453055A>G	ENST00000535453.1	+	1	1768	c.55A>G	c.(55-57)Aag>Gag	p.K19E	APC2_ENST00000233607.2_Missense_Mutation_p.K19E|APC2_ENST00000238483.4_Missense_Mutation_p.K19E			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCTTGAAGGCTGAGAA	0.622																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(55-57)Aag>Gag		adenomatosis polyposis coli 2							38.0	34.0	36.0					19																	1453055		2203	4300	6503	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1453055A>G		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.55A>G	19.37:g.1453055A>G	ENSP00000442954:p.Lys19Glu					APC2_ENST00000233607.2_Missense_Mutation_p.K19E|APC2_ENST00000238483.4_Missense_Mutation_p.K19E	p.K19E			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1768	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	19					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.55A>G	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230783	0.58777	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.20200	2.09;2.09;2.09	4.75	3.69	0.42338	.	0.236252	0.37348	N	0.002127	T	0.15219	0.0367	L	0.32530	0.975	0.19300	N	0.999972	B;B	0.33807	0.426;0.3	B;B	0.31101	0.124;0.058	T	0.13176	-1.0519	10	0.72032	D	0.01	-34.8656	9.4373	0.38646	0.8202:0.1798:0.0:0.0	.	19;19	O95996-3;O95996	.;APC2_HUMAN	E	19	ENSP00000233607:K19E;ENSP00000238483:K19E;ENSP00000442954:K19E	ENSP00000233607:K19E	K	+	1	0	APC2	1404055	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.074000	0.41529	0.623000	0.30267	0.379000	0.24179	AAG		0.622	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		4	5	0	0	0	1	0	4	5				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	1						5	1	---	---	---	---
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs375030402|rs550666541	byFrequency	TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aaaaagfs	p.KK187fs	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	187						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309														73	0.0145767	0.0	0.0086	5008	,	,		20736	0.003		0.0239	False		,,,				2504	0.0409					ENST00000377477.2																			0				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						c.(559-564)aafs		ankyrin repeat domain 20 family, member A1																																				SO:0001589	frameshift_variant	84210							g.chr9:67934791_67934794delAAAG	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.561_564delAAAG	9.37:g.67934795_67934798delAAAG	ENSP00000366697:p.Lys187fs						p.KK187fs	NM_032250.3	NP_115626.2					4	673_676	+								Q9H0H6	Frame_Shift_Del	DEL	ENST00000377477.2	37	c.561_564delAAAG	CCDS6620.1																																																																																				0.309	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			3	4						3	4	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40658165	40658165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr22:40658165delG	ENST00000454349.2	+	4	656	c.445delG	c.(445-447)gggfs	p.G149fs	TNRC6B_ENST00000301923.9_Frame_Shift_Del_p.G185fs|TNRC6B_ENST00000402203.1_Frame_Shift_Del_p.G185fs|TNRC6B_ENST00000335727.9_Frame_Shift_Del_p.G149fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	149	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GAGTGAGAGTGGGACTGCGCC	0.567																																						ENST00000454349.2																			0				breast(1)	1						c.(445-447)ggfs		trinucleotide repeat containing 6B							24.0	27.0	26.0					22																	40658165		2139	4243	6382	SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40658165delG	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.445delG	22.37:g.40658165delG	ENSP00000401946:p.Gly149fs					TNRC6B_ENST00000335727.8_Frame_Shift_Del_p.G149fs|TNRC6B_ENST00000301923.9_Frame_Shift_Del_p.G185fs|TNRC6B_ENST00000402203.1_Frame_Shift_Del_p.G185fs	p.G149fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			4	656	+			149					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Del	DEL	ENST00000454349.2	37	c.445delG	CCDS54533.1																																																																																				0.567	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
