#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PARS2	25973	broad.mit.edu	37	1	55224300	55224300	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:55224300A>G	ENST00000371279.3	-	2	617	c.535T>C	c.(535-537)Ttc>Ctc	p.F179L		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	179					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TACAGCAGGAAGGGAAGCTGC	0.512																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(535-537)Ttc>Ctc		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						143.0	143.0	143.0					1																	55224300		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224300A>G	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.535T>C	1.37:g.55224300A>G	ENSP00000360327:p.Phe179Leu		Somatic					p.F179L	NM_152268.3	NP_689481.2	WXS	Illumina GAIIx	Phase_I	Q7L3T8	SYPM_HUMAN			2	617	-			179					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.535T>C	CCDS597.1	.	.	.	.	.	.	.	.	.	.	A	1.909	-0.451122	0.04572	.	.	ENSG00000162396	ENST00000371279	T	0.66460	-0.21	5.15	1.65	0.23941	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.343534	0.27946	N	0.017212	T	0.16171	0.0389	N	0.00055	-2.37	0.25650	N	0.986109	B	0.02656	0.0	B	0.01281	0.0	T	0.43376	-0.9395	10	0.02654	T	1	-4.7859	3.4917	0.07639	0.4165:0.0:0.3961:0.1874	.	179	Q7L3T8	SYPM_HUMAN	L	179	ENSP00000360327:F179L	ENSP00000360327:F179L	F	-	1	0	PARS2	54996888	0.354000	0.24912	0.299000	0.25016	0.860000	0.49131	0.833000	0.27504	0.308000	0.22923	-0.371000	0.07208	TTC		0.512	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		4	91	4	91	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61456734	61456734	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:61456734C>G	ENST00000398571.2	-	59	7224	c.7148G>C	c.(7147-7149)aGg>aCg	p.R2383T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2383					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGGTCTCAGCCTCTGAATCAC	0.388																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(7147-7149)aGg>aCg		ubiquitin specific peptidase 34							215.0	207.0	210.0					2																	61456734		1933	4145	6078	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61456734C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7148G>C	2.37:g.61456734C>G	ENSP00000381577:p.Arg2383Thr		Somatic					p.R2383T	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		59	7224	-			2383					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.7148G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.147399|3.147399	0.57151|0.57151	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	.|T;T	.|0.65364	.|-0.15;3.77	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Armadillo-type fold (1);	.|0.056520	.|0.85682	.|D	.|0.000000	T|T	0.63827|0.63827	0.2544|0.2544	L|L	0.42245|0.42245	1.32|1.32	0.51482|0.51482	D|D	0.999928|0.999928	.|B	.|0.25351	.|0.124	.|B	.|0.36418	.|0.224	T|T	0.59048|0.59048	-0.7527|-0.7527	5|10	.|0.44086	.|T	.|0.13	.|.	20.156|20.156	0.98114|0.98114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2383	.|Q70CQ2	.|UBP34_HUMAN	D|T	142|2231;2231;2383;661	.|ENSP00000381577:R2383T;ENSP00000410559:R661T	.|ENSP00000263989:R2231T	E|R	-|-	3|2	2|0	USP34|USP34	61310238|61310238	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	6.013000|6.013000	0.70776|0.70776	2.843000|2.843000	0.97960|0.97960	0.603000|0.603000	0.83216|0.83216	GAG|AGG		0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			5	141	5	141	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113514387	113514387	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:113514387G>T	ENST00000302450.6	-	4	639	c.561C>A	c.(559-561)aaC>aaA	p.N187K	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_Missense_Mutation_p.N22K	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	187						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TATCGAGCAAGTTCTCTTTGT	0.323																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(64-66)aaC>aaA		cytoskeleton associated protein 2-like							90.0	95.0	93.0					2																	113514387		2202	4300	6502	SO:0001583	missense	150468					centrosome		g.chr2:113514387G>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.561C>A	2.37:g.113514387G>T	ENSP00000305204:p.Asn187Lys		Somatic				CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000302450.6_Missense_Mutation_p.N187K	p.N22K			WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			4	589	-			187					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.66C>A	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929637	0.52759	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.24908	1.83;2.34	5.0	5.0	0.66597	.	0.161695	0.42294	D	0.000728	T	0.43500	0.1250	M	0.73598	2.24	0.37759	D	0.926253	D	0.57257	0.979	P	0.54026	0.74	T	0.51880	-0.8649	10	0.72032	D	0.01	-17.4544	14.5097	0.67776	0.0:0.0:1.0:0.0	.	187	Q8IYA6	CKP2L_HUMAN	K	22;187	ENSP00000438763:N22K;ENSP00000305204:N187K	ENSP00000305204:N187K	N	-	3	2	CKAP2L	113230858	0.866000	0.29940	0.990000	0.47175	0.141000	0.21300	0.972000	0.29409	2.705000	0.92388	0.585000	0.79938	AAC		0.323	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		5	30	5	30	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120847945	120847945	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:120847945T>G	ENST00000263713.5	+	12	1110	c.896T>G	c.(895-897)tTt>tGt	p.F299C	EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	299	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GAACATACATTTGTCTTTAGA	0.383																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(895-897)tTt>tGt		erythrocyte membrane protein band 4.1 like 5							117.0	114.0	115.0					2																	120847945		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120847945T>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.896T>G	2.37:g.120847945T>G	ENSP00000263713:p.Phe299Cys		Somatic				EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C	p.F299C	NM_020909.3	NP_065960.2	WXS	Illumina GAIIx	Phase_I	Q9HCM4	E41L5_HUMAN			12	1110	+			299			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.896T>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170341	0.78452	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.41	5.41	0.78517	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.987;1.0;0.993;1.0	D	0.96045	0.9027	10	0.87932	D	0	.	15.7378	0.77859	0.0:0.0:0.0:1.0	.	299;299;299;299	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	C	299	ENSP00000263713:F299C;ENSP00000393856:F299C;ENSP00000329687:F299C;ENSP00000393722:F299C;ENSP00000390439:F299C	ENSP00000263713:F299C	F	+	2	0	EPB41L5	120564415	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.862000	0.87013	2.184000	0.69523	0.477000	0.44152	TTT		0.383	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		20	56	20	56	---	---	---	---
FZD7	8324	broad.mit.edu	37	2	202899587	202899587	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:202899587C>G	ENST00000286201.1	+	1	278	c.217C>G	c.(217-219)Cac>Gac	p.H73D	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	73	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCTGCTGGGCCACACGAACCA	0.612																																						ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(217-219)Cac>Gac		frizzled family receptor 7							127.0	111.0	116.0					2																	202899587		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202899587C>G	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.217C>G	2.37:g.202899587C>G	ENSP00000286201:p.His73Asp		Somatic					p.H73D	NM_003507.1	NP_003498.1	WXS	Illumina GAIIx	Phase_I	O75084	FZD7_HUMAN			1	278	+			73			FZ.		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.217C>G	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308277	0.60305	.	.	ENSG00000155760	ENST00000286201	D	0.81996	-1.56	5.0	4.12	0.48240	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.92896	0.7740	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.94182	0.7433	10	0.62326	D	0.03	.	14.7142	0.69254	0.1463:0.8537:0.0:0.0	.	73	O75084	FZD7_HUMAN	D	73	ENSP00000286201:H73D	ENSP00000286201:H73D	H	+	1	0	FZD7	202607832	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.072000	0.71238	1.077000	0.40990	0.313000	0.20887	CAC		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		9	23	9	23	---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887996	3887996	+	Silent	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:3887996G>T	ENST00000319331.3	+	2	2432	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAAATGGTCGTCTGCCACCA	0.443																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1669-1671)tcG>tcT		leucine rich repeat neuronal 1							202.0	205.0	204.0					3																	3887996		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887996G>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1671G>T	3.37:g.3887996G>T			Somatic				SUMF1_ENST00000534863.1_Intron	p.S557S	NM_020873.5	NP_065924.3	WXS	Illumina GAIIx	Phase_I	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2432	+			557			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1671G>T	CCDS33685.1																																																																																				0.443	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		9	191	9	191	---	---	---	---
APBB2	323	broad.mit.edu	37	4	40829194	40829194	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr4:40829194A>G	ENST00000295974.8	-	14	2313	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P	APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000513140.1_Missense_Mutation_p.S541P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	562	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TCCTGTAAGGAGCTGCAGGCC	0.532																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1684-1686)Tcc>Ccc		amyloid beta (A4) precursor protein-binding, family B, member 2							167.0	167.0	167.0					4																	40829194		2022	4183	6205	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40829194A>G	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1684T>C	4.37:g.40829194A>G	ENSP00000295974:p.Ser562Pro		Somatic				APBB2_ENST00000513140.1_Missense_Mutation_p.S541P|APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P	p.S562P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	WXS	Illumina GAIIx	Phase_I	Q92870	APBB2_HUMAN			14	2313	-			562			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1684T>C	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.642029|3.642029	0.67244|0.67244	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516	.|T;T;T;T;T;T;T;T	.|0.49432	.|2.31;0.8;2.36;2.31;0.8;2.35;0.8;0.78	5.89|5.89	3.33|3.33	0.38152|0.38152	.|.	.|0.167857	.|0.56097	.|D	.|0.000037	T|T	0.36771|0.36771	0.0979|0.0979	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999994|0.999994	.|P;P;P	.|0.47253	.|0.822;0.889;0.892	.|P;P;P	.|0.51170	.|0.46;0.661;0.46	T|T	0.11518|0.11518	-1.0584|-1.0584	5|10	.|0.30854	.|T	.|0.27	-13.591|-13.591	12.8694|12.8694	0.57957|0.57957	0.7441:0.2559:0.0:0.0|0.7441:0.2559:0.0:0.0	.|.	.|563;541;562	.|E9PG87;Q92870-2;Q92870	.|.;.;APBB2_HUMAN	P|P	531|562;561;14;541;563;14;541;14;76;14;14;14	.|ENSP00000295974:S562P;ENSP00000439357:S14P;ENSP00000426018:S541P;ENSP00000427211:S563P;ENSP00000425802:S14P;ENSP00000421539:S541P;ENSP00000423765:S14P;ENSP00000426429:S76P	.|ENSP00000295974:S562P	L|S	-|-	2|1	0|0	APBB2|APBB2	40523951|40523951	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.777000|0.777000	0.43975|0.43975	5.668000|5.668000	0.68074|0.68074	0.423000|0.423000	0.26033|0.26033	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.532	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		7	84	7	84	---	---	---	---
HIST1H2AE	3012	broad.mit.edu	37	6	26217407	26217407	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:26217407A>C	ENST00000303910.2	+	1	243	c.205A>C	c.(205-207)Aac>Cac	p.N69H	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	69						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCTAGCTGGCAACGCGGCTCG	0.602																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(205-207)Aac>Cac		histone cluster 1, H2ae							61.0	61.0	61.0					6																	26217407		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217407A>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.205A>C	6.37:g.26217407A>C	ENSP00000303373:p.Asn69His		Somatic					p.N69H	NM_021052.2	NP_066390.1	WXS	Illumina GAIIx	Phase_I	P04908	H2A1B_HUMAN			1	243	+		all_hematologic(11;0.196)	69					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.205A>C	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.83	2.352765	0.41700	.	.	ENSG00000168274	ENST00000303910	T	0.69926	-0.44	4.07	4.07	0.47477	.	0.000000	0.36740	U	0.002429	D	0.86573	0.5965	H	0.99042	4.41	0.46356	D	0.999004	.	.	.	.	.	.	D	0.91107	0.4919	8	0.87932	D	0	.	12.6507	0.56759	1.0:0.0:0.0:0.0	.	.	.	.	H	69	ENSP00000303373:N69H	ENSP00000303373:N69H	N	+	1	0	HIST1H2AE	26325386	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	8.908000	0.92640	1.834000	0.53371	0.528000	0.53228	AAC		0.602	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		5	32	5	32	---	---	---	---
ZSCAN25	221785	broad.mit.edu	37	7	99217321	99217321	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr7:99217321G>C	ENST00000394152.2	+	4	419	c.92G>C	c.(91-93)aGa>aCa	p.R31T	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	31					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCATGGGGCAGAGGAAGGGAG	0.557																																						ENST00000394152.2																			0											c.(91-93)aGa>aCa		zinc finger and SCAN domain containing 25							146.0	164.0	158.0					7																	99217321		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99217321G>C	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.92G>C	7.37:g.99217321G>C	ENSP00000377708:p.Arg31Thr		Somatic				ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000466948.1_3'UTR	p.R31T	NM_145115.2	NP_660090.2	WXS	Illumina GAIIx	Phase_I					4	419	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.92G>C	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	5.389	0.257007	0.10239	.	.	ENSG00000197037	ENST00000394152;ENST00000431485;ENST00000334715;ENST00000262941	T;T;T;T	0.08896	3.08;3.05;3.08;3.04	4.4	1.43	0.22495	.	0.283865	0.26038	N	0.026717	T	0.04452	0.0122	N	0.19112	0.55	0.24533	N	0.994106	B;B	0.30281	0.275;0.079	B;B	0.27076	0.076;0.035	T	0.33650	-0.9860	10	0.62326	D	0.03	-19.0159	3.6552	0.08218	0.2468:0.2061:0.5471:0.0	.	31;31	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	T	31	ENSP00000377708:R31T;ENSP00000413144:R31T;ENSP00000334800:R31T;ENSP00000262941:R31T	ENSP00000262941:R31T	R	+	2	0	ZNF498	99055257	0.978000	0.34361	0.141000	0.22245	0.000000	0.00434	1.305000	0.33493	0.305000	0.22832	-0.916000	0.02749	AGA		0.557	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		7	167	7	167	---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26623613	26623613	+	Silent	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:26623613A>G	ENST00000354550.4	-	3	1522	c.1323T>C	c.(1321-1323)caT>caC	p.H441H	ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron	NM_033304.2	NP_150647.2	P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TAAAATTCACATGCTTGATAT	0.443																																						ENST00000354550.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1321-1323)caT>caC		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						158.0	148.0	152.0					8																	26623613		2203	4300	6503	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26623613A>G	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000354550.4:c.1323T>C	8.37:g.26623613A>G			Somatic				ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron	p.H441H	NM_033304.2	NP_150647.2	WXS	Illumina GAIIx	Phase_I	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	1522	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	0					Q9NPY0	Silent	SNP	ENST00000354550.4	37	c.1323T>C	CCDS6053.1																																																																																				0.443	ADRA1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216928.1	NM_033303		14	61	14	61	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133053367	133053367	+	Silent	SNP	G	G	A	rs368734460		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:133053367G>A	ENST00000443356.2	-	6	467	c.381C>T	c.(379-381)gcC>gcT	p.A127A	OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000254627.3_Silent_p.A127A|OC90_ENST00000262283.5_Silent_p.A323A			Q02509	OC90_HUMAN	otoconin 90	127	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.A133A(1)|p.A323A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCATCTCAGCGGCCTCCTCAT	0.577																																						ENST00000262283.5																			2	Substitution - coding silent(2)	p.A133A(1)|p.A323A(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(967-969)gcC>gcT		otoconin 90		G		0,3930		0,0,1965	108.0	107.0	107.0		381	-11.2	0.0	8		107	1,8323		0,1,4161	no	coding-synonymous	OC90	NM_001080399.2		0,1,6126	AA,AG,GG		0.012,0.0,0.0082		127/478	133053367	1,12253	1965	4162	6127	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053367G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.381C>T	8.37:g.133053367G>A			Somatic				OC90_ENST00000443356.2_Silent_p.A127A|OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000254627.3_Silent_p.A127A	p.A323A			WXS	Illumina GAIIx	Phase_I	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		9	1068	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		127			Phospholipase A2-like 2.		B4DNG8	Silent	SNP	ENST00000443356.2	37	c.969C>T																																																																																					0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		14	87	14	87	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96580307	96580307	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr10:96580307G>A	ENST00000371321.3	+	6	956	c.874G>A	c.(874-876)Gct>Act	p.A292T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	292					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.A292P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATCACTGCAGCTGACTTACT	0.418																																						ENST00000371321.3																			1	Substitution - Missense(1)	p.A292P(1)	large_intestine(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(874-876)Gct>Act		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						167.0	152.0	157.0					10																	96580307		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96580307G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.874G>A	10.37:g.96580307G>A	ENSP00000360372:p.Ala292Thr		Somatic				CYP2C19_ENST00000464755.1_3'UTR	p.A292T	NM_000769.1	NP_000760	WXS	Illumina GAIIx	Phase_I	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	6	956	+		Colorectal(252;0.09)	292					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.874G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	4.025	0.002041	0.07819	.	.	ENSG00000165841	ENST00000371321	T	0.12147	2.71	3.95	-7.89	0.01174	.	0.479979	0.17652	U	0.166646	T	0.04634	0.0126	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19943	-1.0290	10	0.22109	T	0.4	.	5.0567	0.14537	0.2652:0.0892:0.5167:0.1289	.	292	P33261	CP2CJ_HUMAN	T	292	ENSP00000360372:A292T	ENSP00000360372:A292T	A	+	1	0	CYP2C19	96570297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.207000	0.00041	-2.175000	0.00771	-0.755000	0.03482	GCT		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		5	80	5	80	---	---	---	---
C11orf42	160298	broad.mit.edu	37	11	6231080	6231080	+	Splice_Site	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:6231080G>A	ENST00000316375.2	+	2	123	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	25										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCTGCAGGTCATCGAGGA	0.507																																						ENST00000316375.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15						c.(73-75)Gtc>Atc		chromosome 11 open reading frame 42							160.0	134.0	143.0					11																	6231080		2201	4296	6497	SO:0001630	splice_region_variant	160298							g.chr11:6231080G>A	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.73-1G>A	11.37:g.6231080G>A			Somatic					p.V25I	NM_173525.2	NP_775796.2	WXS	Illumina GAIIx	Phase_I	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	123	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	25						Splice_Site	SNP	ENST00000316375.2	37	c.73G>A	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245567	0.59103	.	.	ENSG00000180878	ENST00000316375	T	0.60299	0.2	5.1	5.1	0.69264	.	0.000000	0.47455	D	0.000227	T	0.61565	0.2357	N	0.24115	0.695	0.35074	D	0.762793	D	0.61697	0.99	D	0.73380	0.98	T	0.66488	-0.5911	9	.	.	.	-12.088	13.8814	0.63684	0.0:0.0:1.0:0.0	.	25	Q8N5U0	CK042_HUMAN	I	25	ENSP00000321021:V25I	.	V	+	1	0	C11orf42	6187656	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.841000	0.62824	2.659000	0.90383	0.585000	0.79938	GTC		0.507	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525	Missense_Mutation	5	68	5	68	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18956163	18956163	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:18956163G>A	ENST00000302797.3	-	1	393	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGTTCCTGCGCATGCGGCAG	0.557																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(169-171)Cgc>Tgc		MAS-related GPR, member X1							146.0	141.0	143.0					11																	18956163		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956163G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.169C>T	11.37:g.18956163G>A	ENSP00000305766:p.Arg57Cys		Somatic				MRGPRX1_ENST00000526914.1_5'UTR	p.R57C	NM_147199.3	NP_671732.3	WXS	Illumina GAIIx	Phase_I	Q96LB2	MRGX1_HUMAN			1	393	-			57					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.169C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	9.146	1.015153	0.19355	.	.	ENSG00000170255	ENST00000302797	T	0.10960	2.82	2.43	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.831486	0.10560	N	0.660392	T	0.14743	0.0356	M	0.83118	2.625	0.09310	N	1	B	0.26935	0.164	B	0.24269	0.052	T	0.24083	-1.0170	10	0.51188	T	0.08	.	4.9666	0.14094	0.0:0.2369:0.521:0.2421	.	57	Q96LB2	MRGX1_HUMAN	C	57	ENSP00000305766:R57C	ENSP00000305766:R57C	R	-	1	0	MRGPRX1	18912739	0.000000	0.05858	0.038000	0.18304	0.029000	0.11900	-0.661000	0.05311	0.548000	0.28955	0.491000	0.48974	CGC		0.557	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		4	150	4	150	---	---	---	---
BDNF	627	broad.mit.edu	37	11	27679584	27679584	+	Silent	SNP	T	T	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:27679584T>C	ENST00000525528.1	-	1	1621	c.528A>G	c.(526-528)caA>caG	p.Q176Q	BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF_ENST00000395978.3_Silent_p.Q176Q|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000584049.1_5'UTR	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	176					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						ATTGCTTCAGTTGGCCTTTTG	0.502																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(526-528)caA>caG		brain-derived neurotrophic factor							215.0	211.0	212.0					11																	27679584		2202	4299	6501	SO:0001819	synonymous_variant	627					extracellular region	growth factor activity	g.chr11:27679584T>C	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.528A>G	11.37:g.27679584T>C			Somatic				BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395978.3_Silent_p.Q176Q|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF-AS_ENST00000532965.1_RNA	p.Q176Q	NM_170735.5	NP_733931.1	WXS	Illumina GAIIx	Phase_I	P23560	BDNF_HUMAN			1	1621	-			176					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Silent	SNP	ENST00000525528.1	37	c.528A>G	CCDS7866.1																																																																																				0.502	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		11	115	11	115	---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125483004	125483004	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:125483004G>T	ENST00000529196.1	+	14	1692	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y|STT3A_ENST00000392708.4_Missense_Mutation_p.D496Y			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	496					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CCGTGGTGGGGATGGCAGTAG	0.483																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1486-1488)Gat>Tat		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							181.0	168.0	172.0					11																	125483004		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125483004G>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1486G>T	11.37:g.125483004G>T	ENSP00000436962:p.Asp496Tyr		Somatic				STT3A_ENST00000529196.1_Missense_Mutation_p.D496Y|STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y	p.D496Y	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	WXS	Illumina GAIIx	Phase_I	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1645	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	496					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1486G>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091628	0.76756	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.92219	3.285	0.80722	D	1	P;B	0.47762	0.9;0.314	P;B	0.54174	0.744;0.178	D	0.87053	0.2148	9	0.87932	D	0	-19.6671	19.8035	0.96518	0.0:0.0:1.0:0.0	.	404;496	B4DJ24;P46977	.;STT3A_HUMAN	Y	496;496;404	.	ENSP00000376472:D496Y	D	+	1	0	STT3A	124988214	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.771000	0.95319	0.563000	0.77884	GAT		0.483	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		7	73	7	73	---	---	---	---
COMMD6	170622	broad.mit.edu	37	13	76104276	76104276	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr13:76104276A>G	ENST00000377615.3	-	4	345	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L	COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L|COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	61	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		GTCATTTCAAAGCACTTGGTC	0.378																																						ENST00000377615.3																			0				breast(1)|lung(1)|urinary_tract(1)	3						c.(181-183)Ttt>Ctt		COMM domain containing 6							151.0	135.0	140.0					13																	76104276		2203	4300	6503	SO:0001583	missense	170622					cytoplasm|nucleus	protein binding	g.chr13:76104276A>G	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.181T>C	13.37:g.76104276A>G	ENSP00000366841:p.Phe61Leu		Somatic				COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L	p.F61L			WXS	Illumina GAIIx	Phase_I	Q7Z4G1	COMD6_HUMAN		GBM - Glioblastoma multiforme(99;0.0104)	4	345	-		Breast(118;0.0979)|Prostate(6;0.122)	61			COMM.		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	c.181T>C	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590628	0.46214	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.23	4.02	0.46733	COMM domain (1);	0.050243	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.54753	D	0.999987	B;P	0.34724	0.247;0.465	B;B	0.34590	0.186;0.179	T	0.30966	-0.9960	9	0.23891	T	0.37	.	11.0338	0.47789	0.8562:0.0:0.0:0.1438	.	61;61	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	L	61;61;76;61	ENSP00000385660:F61L;ENSP00000366841:F61L;ENSP00000366845:F76L;ENSP00000348054:F61L	ENSP00000348054:F61L	F	-	1	0	COMMD6	75002277	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.687000	0.68219	0.897000	0.36392	0.533000	0.62120	TTT		0.378	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		4	77	4	77	---	---	---	---
REC8	9985	broad.mit.edu	37	14	24642195	24642195	+	Silent	SNP	C	C	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:24642195C>T	ENST00000311457.3	+	4	812	c.213C>T	c.(211-213)gcC>gcT	p.A71A	REC8_ENST00000559919.1_Silent_p.A71A			O95072	REC8_HUMAN	REC8 meiotic recombination protein	71					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCTCTCAGCCCAACTTCAGA	0.602																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(211-213)gcC>gcT		REC8 meiotic recombination protein							83.0	91.0	89.0					14																	24642195		1973	4145	6118	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642195C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.213C>T	14.37:g.24642195C>T			Somatic				REC8_ENST00000559919.1_Silent_p.A71A	p.A71A			WXS	Illumina GAIIx	Phase_I	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	812	+			71					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.213C>T	CCDS41932.1																																																																																				0.602	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		6	36	6	36	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72054926	72054926	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:72054926A>T	ENST00000555818.1	+	2	685	c.337A>T	c.(337-339)Agc>Tgc	p.S113C	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	113	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCTCCAAAAGCAGTCCTGT	0.453																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(337-339)Agc>Tgc		signal-induced proliferation-associated 1 like 1							146.0	152.0	150.0					14																	72054926		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054926A>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.337A>T	14.37:g.72054926A>T	ENSP00000450832:p.Ser113Cys		Somatic				SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C	p.S113C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	WXS	Illumina GAIIx	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	685	+			113			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.337A>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250860	0.59212	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78246	-1.16;-1.16;-1.16	5.93	3.3	0.37823	.	0.322816	0.41500	D	0.000862	T	0.80138	0.4568	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.66847	0.808;0.947;0.808	T	0.80473	-0.1367	10	0.66056	D	0.02	-17.9926	10.537	0.45009	0.8454:0.0:0.1546:0.0	.	113;113;113	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	C	113	ENSP00000370630:S113C;ENSP00000450832:S113C;ENSP00000351352:S113C	ENSP00000351352:S113C	S	+	1	0	SIPA1L1	71124679	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.533000	0.67160	1.074000	0.40909	0.533000	0.62120	AGC		0.453	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	84	7	84	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79181239	79181239	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:79181239G>T	ENST00000554719.1	+	5	1173	c.682G>T	c.(682-684)Gcc>Tcc	p.A228S	NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTGTGGACTGCCATGCTCAA	0.592																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(682-684)Gcc>Tcc		neurexin 3							82.0	69.0	74.0					14																	79181239		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79181239G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.682G>T	14.37:g.79181239G>T	ENSP00000451648:p.Ala228Ser		Somatic				NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	p.A228S	NM_004796.4	NP_004787.2	WXS	Illumina GAIIx	Phase_I	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1173	+		Renal(4;0.00876)	0			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.682G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389799	0.95988	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79033	-1.23;-1.23	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.97	D;D	0.91635	0.999;0.975	D	0.87829	0.2643	8	.	.	.	.	20.1082	0.97900	0.0:0.0:1.0:0.0	.	601;228	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	S	601;599;228;228	ENSP00000451648:A228S;ENSP00000338349:A228S	.	A	+	1	0	NRXN3	78250992	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.764000	0.94973	0.555000	0.69702	GCC		0.592	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		3	37	3	37	---	---	---	---
NEDD4	4734	broad.mit.edu	37	15	56126282	56126282	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:56126282T>C	ENST00000508342.1	-	22	3940	c.3641A>G	c.(3640-3642)aAa>aGa	p.K1214R	NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R|NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1214	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTAGCCATTTTTATACTTTGT	0.308																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3640-3642)aAa>aGa		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							162.0	146.0	152.0					15																	56126282		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56126282T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3641A>G	15.37:g.56126282T>C	ENSP00000424827:p.Lys1214Arg		Somatic				NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R	p.K1214R	NM_001284338.1	NP_001271267.1	WXS	Illumina GAIIx	Phase_I	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	22	3940	-			1214			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3641A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.32|13.32	2.201431|2.201431	0.38905|0.38905	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T|T;T;T;T	0.57273|0.58652	0.41|0.32;0.32;0.32;0.32	5.54|5.54	5.54|5.54	0.83059|0.83059	.|HECT (4);	0.043563|0.043563	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59797|0.59797	0.2220|0.2220	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D;B;P;B	.|0.76494	.|0.999;0.374;0.486;0.262	.|D;B;B;B	.|0.77004	.|0.989;0.181;0.39;0.152	T|T	0.55042|0.55042	-0.8202|-0.8202	8|10	0.87932|0.12766	D|T	0|0.61	.|.	14.864|14.864	0.70401|0.70401	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1198;795;1214;1142	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	E|R	805|1214;795;1142;1198	ENSP00000422455:K805E|ENSP00000424827:K1214R;ENSP00000410613:K795R;ENSP00000345530:K1142R;ENSP00000422705:K1198R	ENSP00000422455:K805E|ENSP00000345530:K1142R	K|K	-|-	1|2	0|0	NEDD4|NEDD4	53913574|53913574	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	8.036000|8.036000	0.88901|0.88901	2.094000|2.094000	0.63399|0.63399	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.308	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		13	59	13	59	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99467806	99467806	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:99467806A>C	ENST00000268035.6	+	13	3286	c.2675A>C	c.(2674-2676)aAg>aCg	p.K892T	IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	892	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGAGGGGCCAAGCTAAACCGG	0.498																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2674-2676)aAg>aCg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						150.0	143.0	146.0					15																	99467806		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99467806A>C	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2675A>C	15.37:g.99467806A>C	ENSP00000268035:p.Lys892Thr		Somatic				IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	p.K892T	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		13	3286	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		892			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2675A>C	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557487	0.65425	.	.	ENSG00000140443	ENST00000268035	T	0.51325	0.71	5.92	2.46	0.29980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.32971	0.0847	N	0.05351	-0.065	0.45056	D	0.998074	P;B	0.45078	0.85;0.051	P;B	0.49140	0.601;0.038	T	0.08827	-1.0703	10	0.35671	T	0.21	.	9.8922	0.41296	0.8126:0.0:0.1874:0.0	.	892;892	C9J5X1;P08069	.;IGF1R_HUMAN	T	892	ENSP00000268035:K892T	ENSP00000268035:K892T	K	+	2	0	IGF1R	97285329	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.260000	0.51523	1.079000	0.41038	0.533000	0.62120	AAG		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		22	64	22	64	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74091976	74091976	+	Silent	SNP	T	T	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr18:74091976T>A	ENST00000443185.2	-	4	2411	c.2094A>T	c.(2092-2094)ggA>ggT	p.G698G	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	698					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCTCCGCTCCCGTACTGG	0.587																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2092-2094)ggA>ggT		zinc finger protein 516							55.0	57.0	57.0					18																	74091976		1976	4169	6145	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091976T>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2094A>T	18.37:g.74091976T>A			Somatic				ZNF516_ENST00000524431.2_5'UTR	p.G698G	NM_014643.3	NP_055458.1	WXS	Illumina GAIIx	Phase_I	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2411	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	698						Silent	SNP	ENST00000443185.2	37	c.2094A>T																																																																																					0.587	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		6	36	6	36	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430555	12430555	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:12430555C>A	ENST00000293725.5	-	4	489	c.284G>T	c.(283-285)aGc>aTc	p.S95I	ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	95	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGACAAATGCTGTTGTTCAC	0.398																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(283-285)aGc>aTc		zinc finger protein 563							196.0	182.0	186.0					19																	12430555		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430555C>A	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.284G>T	19.37:g.12430555C>A	ENSP00000293725:p.Ser95Ile		Somatic				ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	p.S95I	NM_145276.2	NP_660319.1	WXS	Illumina GAIIx	Phase_I	Q8TA94	ZN563_HUMAN			4	489	-			95			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.284G>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383819	0.25031	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.14640	2.49	0.715	-0.657	0.11432	Krueppel-associated box (1);	.	.	.	.	T	0.07773	0.0195	N	0.08118	0	0.09310	N	0.999998	D;P	0.56287	0.975;0.725	P;B	0.47430	0.547;0.327	T	0.24621	-1.0155	9	0.49607	T	0.09	.	4.5201	0.11956	0.0:0.62:0.0:0.38	.	95;95	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	I	95	ENSP00000293725:S95I	ENSP00000293725:S95I	S	-	2	0	ZNF563	12291555	0.000000	0.05858	0.019000	0.16419	0.292000	0.27327	-0.134000	0.10436	-0.284000	0.09102	0.305000	0.20034	AGC		0.398	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		4	129	4	129	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51918364	51918364	+	Splice_Site	SNP	T	T	G	rs562624986		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:51918364T>G	ENST00000339313.5	-	8	1447		c.e8-2		SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000356298.5_Splice_Site|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Splice_Site			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCGGGGAGTCTGAGGGGAGGG	0.682																																						ENST00000356298.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.e8-2		sialic acid binding Ig-like lectin 10							23.0	25.0	24.0					19																	51918364		2202	4300	6502	SO:0001630	splice_region_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918364T>G	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1331-2A>C	19.37:g.51918364T>G			Somatic				SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000442846.3_Intron		NM_033130.4	NP_149121.2	WXS	Illumina GAIIx	Phase_I	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	1447	-		all_neural(266;0.0199)						A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Splice_Site	SNP	ENST00000339313.5	37		CCDS12832.1	.	.	.	.	.	.	.	.	.	.	T	7.442	0.640975	0.14386	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7877	0.46415	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC10	56610176	1.000000	0.71417	0.426000	0.26672	0.061000	0.15899	3.682000	0.54656	1.813000	0.52934	0.459000	0.35465	.		0.682	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	Intron	3	14	3	14	---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59060745	59060745	+	Silent	SNP	G	G	A	rs373664048		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:59060745G>A	ENST00000253024.5	+	13	1999	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	TRIM28_ENST00000341753.6_Silent_p.E488E	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	570					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGCCACTGAGGGCCCTGAGA	0.637																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1708-1710)gaG>gaA		tripartite motif containing 28				0,4406		0,0,2203	112.0	123.0	119.0		1710	-1.6	0.5	19		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM28	NM_005762.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		570/836	59060745	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060745G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1710G>A	19.37:g.59060745G>A			Somatic				TRIM28_ENST00000341753.6_Silent_p.E488E	p.E570E	NM_005762.2	NP_005753.1	WXS	Illumina GAIIx	Phase_I	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	13	1999	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	570					O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.1710G>A	CCDS12985.1																																																																																				0.637	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		33	76	33	76	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42525129	42525129	+	Silent	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr22:42525129G>T	ENST00000360608.5	-	3	525	c.411C>A	c.(409-411)tcC>tcA	p.S137S	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.S137S|CYP2D6_ENST00000359033.4_Intron	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	137					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGCGCAAGGTGGAGACGGAGA	0.687																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(409-411)tcC>tcA		cytochrome P450, family 2, subfamily D, polypeptide 6							23.0	28.0	27.0					22																	42525129		2035	4163	6198	SO:0001819	synonymous_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42525129G>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.411C>A	22.37:g.42525129G>T			Somatic				CYP2D6_ENST00000389970.3_Silent_p.S137S|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000439129.1_RNA	p.S137S	NM_000106.5	NP_000097	WXS	Illumina GAIIx	Phase_I	Q6NWU0	Q6NWU0_HUMAN			3	525	-			137					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.411C>A	CCDS46721.1																																																																																				0.687	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			3	33	3	33	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3240572	3240572	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:3240572C>T	ENST00000217939.6	-	5	3308	c.3154G>A	c.(3154-3156)Gac>Aac	p.D1052N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1052						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTAAGGTGTCTTGAGTGCTT	0.458																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3154-3156)Gac>Aac		matrix-remodelling associated 5							173.0	151.0	159.0					X																	3240572		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240572C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3154G>A	X.37:g.3240572C>T	ENSP00000217939:p.Asp1052Asn		Somatic					p.D1052N	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			5	3308	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1052					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3154G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.387	-0.925343	0.02377	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64991	-0.13	3.29	1.15	0.20763	.	1.143940	0.06774	U	0.784023	T	0.39172	0.1068	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.18871	-1.0323	10	0.06494	T	0.89	.	5.9233	0.19094	0.0:0.5163:0.3653:0.1184	.	1052	Q9NR99	MXRA5_HUMAN	N	1052	ENSP00000217939:D1052N	ENSP00000217939:D1052N	D	-	1	0	MXRA5	3250572	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.455000	0.21843	0.390000	0.25115	0.522000	0.50473	GAC		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	33	6	33	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314095	135314095	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:135314095C>A	ENST00000316077.9	-	8	1241	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	341					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCCACGCTCACCACAGGGAAT	0.572																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1021-1023)Gtg>Ttg		MAP7 domain containing 3							110.0	113.0	112.0					X																	135314095		2185	4251	6436	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314095C>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1021G>T	X.37:g.135314095C>A	ENSP00000318086:p.Val341Leu		Somatic				MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L	p.V341L	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	Q8IWC1	MA7D3_HUMAN			8	1241	-	Acute lymphoblastic leukemia(192;0.000127)		341					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1021G>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287057	0.23478	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.19	3.31	0.37934	.	.	.	.	.	T	0.07908	0.0198	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.18013	0.025;0.021;0.005;0.004	B;B;B;B	0.23852	0.031;0.049;0.01;0.022	T	0.36311	-0.9753	9	0.24483	T	0.36	-0.2888	9.9478	0.41621	0.0:0.8906:0.0:0.1094	.	323;300;341;306	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	306;341;323;300	ENSP00000359695:V306L;ENSP00000318086:V341L;ENSP00000359697:V323L;ENSP00000359694:V300L	ENSP00000318086:V341L	V	-	1	0	MAP7D3	135141761	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.235000	0.09016	0.840000	0.34995	0.600000	0.82982	GTG		0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	35	8	35	---	---	---	---
LACE1	246269	broad.mit.edu	37	6	108768474	108768474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:108768474delC	ENST00000368977.4	+	8	1051	c.865delC	c.(865-867)cctfs	p.P289fs		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	289						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAGGGAACTTCCTGCTGCAGG	0.328																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(865-867)cctfs		lactation elevated 1							103.0	106.0	105.0					6																	108768474		2203	4300	6503	SO:0001589	frameshift_variant	246269						ATP binding	g.chr6:108768474delC	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.865delC	6.37:g.108768474delC	ENSP00000357973:p.Pro289fs		Somatic					p.P289fs	NM_145315.3	NP_660358.2	WXS	Illumina GAIIx	Phase_I	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	8	1051	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	289					Q8N6A3	Frame_Shift_Del	DEL	ENST00000368977.4	37	c.865delC	CCDS5067.1																																																																																				0.328	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		7	92	7	92	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7227518	7227519	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr17:7227518_7227519delCT	ENST00000399464.2	-	11	1985_1986	c.1970_1971delAG	c.(1969-1971)cagfs	p.Q657fs	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	657	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCAGGGCCCTGAGTCATCCC	0.653											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1969-1971)cagfs		neuralized E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	84461							g.chr17:7227518_7227519delCT		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1970_1971delAG	17.37:g.7227518_7227519delCT	ENSP00000382390:p.Gln657fs		Somatic	OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	p.Q657fs	NM_032442.2	NP_115818.2	WXS	Illumina GAIIx	Phase_I					11	1985_1986	-								Q6GPI8|Q96IU9|Q9H0B0	Frame_Shift_Del	DEL	ENST00000399464.2	37	c.1970_1971delAG	CCDS42251.1																																																																																				0.653	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		7	57	7	57	---	---	---	---
