#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC39A12	221074	broad.mit.edu	37	10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr10:18242228C>T	ENST00000377369.2	+	2	296	c.23C>T	c.(22-24)tCa>tTa	p.S8L	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	8					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACAAAGCTCTCAGTATCCTGG	0.502																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(22-24)tCa>tTa		solute carrier family 39 (zinc transporter), member 12							119.0	120.0	120.0					10																	18242228		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242228C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.23C>T	10.37:g.18242228C>T	ENSP00000366586:p.Ser8Leu					SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L	p.S8L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			2	296	+			8					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.23C>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	7.935	0.741461	0.15642	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.22134	1.97;1.97;1.97	5.57	1.14	0.20703	.	1.316580	0.04913	N	0.453598	T	0.18593	0.0446	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.31752	-0.9932	10	0.16420	T	0.52	-0.8956	8.7861	0.34821	0.0:0.5279:0.3455:0.1265	.	8;8;8	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	L	8	ENSP00000366586:S8L;ENSP00000366591:S8L;ENSP00000366588:S8L	ENSP00000366586:S8L	S	+	2	0	SLC39A12	18282234	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.147000	0.10234	0.650000	0.30769	0.655000	0.94253	TCA		0.502	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		6	71	0	0	0	1	0	6	71				
TIMP4	7079	broad.mit.edu	37	3	12198945	12198945	+	Silent	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr3:12198945C>T	ENST00000287814.4	-	2	687	c.177G>A	c.(175-177)ccG>ccA	p.P59P	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	59	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CTGCACTGGCCGGAACTACCT	0.522																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000287814.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(175-177)ccG>ccA		TIMP metallopeptidase inhibitor 4							101.0	91.0	95.0					3																	12198945		2203	4300	6503	SO:0001819	synonymous_variant	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12198945C>T	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.177G>A	3.37:g.12198945C>T						SYN2_ENST00000432424.2_RNA	p.P59P	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN			2	687	-			59			NTR.		B2R7K6	Silent	SNP	ENST00000287814.4	37	c.177G>A	CCDS2608.1																																																																																				0.522	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		3	30	0	0	0	1	0	3	30				
SPOCK2	9806	broad.mit.edu	37	10	73827958	73827958	+	Silent	SNP	G	G	A			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr10:73827958G>A	ENST00000373109.2	-	6	1020	c.576C>T	c.(574-576)gcC>gcT	p.A192A	SPOCK2_ENST00000536168.1_Silent_p.A192A|SPOCK2_ENST00000317376.4_Silent_p.A192A|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	192					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTTTGCCATCGGCGGTGGAGG	0.667																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(574-576)gcC>gcT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							24.0	20.0	21.0					10																	73827958		2198	4298	6496	SO:0001819	synonymous_variant	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73827958G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.576C>T	10.37:g.73827958G>A						SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.A192A|SPOCK2_ENST00000536168.1_Silent_p.A192A	p.A192A	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			6	1020	-			192					C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	c.576C>T	CCDS7313.1																																																																																				0.667	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			9	5	0	0	0	1	0	9	5				
PRLHR	2834	broad.mit.edu	37	10	120353932	120353932	+	Silent	SNP	G	G	A			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr10:120353932G>A	ENST00000369169.1	-	1	824	c.825C>T	c.(823-825)cgC>cgT	p.R275R	PRLHR_ENST00000239032.2_Silent_p.R275R			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	275					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGCAGAAGGTGCGCCGGCGCC	0.687																																						ENST00000239032.2																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(823-825)cgC>cgT		prolactin releasing hormone receptor							25.0	27.0	27.0					10																	120353932		2194	4290	6484	SO:0001819	synonymous_variant	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353932G>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.825C>T	10.37:g.120353932G>A						PRLHR_ENST00000369169.1_Silent_p.R275R	p.R275R	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	963	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	275					O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	c.825C>T	CCDS7606.1																																																																																				0.687	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		6	29	0	0	0	1	0	6	29				
AC015849.16	0	broad.mit.edu	37	17	34235622	34235622	+	lincRNA	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr17:34235622C>T	ENST00000587132.1	-	0	2405																											TAGAGGCCTTCGGTTCCTCCT	0.453																																						ENST00000587132.1																			0																																																			0							g.chr17:34235622C>T																													17.37:g.34235622C>T														0	2405	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.453	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			4	61	0	0	0	1	0	4	61				
TUBBP5	643224	broad.mit.edu	37	9	141070768	141070768	+	RNA	SNP	C	C	T	rs4609262	byFrequency	TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr9:141070768C>T	ENST00000503395.1	+	0	1543									tubulin, beta pseudogene 5																		GCTGTGACTGCCTGCAGGGTT	0.617																																						ENST00000503395.1																			0																																																			0							g.chr9:141070768C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070768C>T														0	1543	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.617	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	23	0	0	0	1	0	3	23				
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T	rs376271028		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1				BMS1 pseudogene 20																		TGTTTAATTCAGCCTTGGAAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22664115A>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664115A>T								NR_027293.1						0	638	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	72	0	0	0	1	0	4	72				
DCAF8L2	347442	broad.mit.edu	37	X	27766084	27766084	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chrX:27766084G>T	ENST00000451261.2	+	5	1471	c.1072G>T	c.(1072-1074)Gtg>Ttg	p.V358L		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	358										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TTCAAAAGTTGTGGTAACAAG	0.448																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1072-1074)Gtg>Ttg		DDB1 and CUL4 associated factor 8-like 2							110.0	76.0	86.0					X																	27766084		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766084G>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1072G>T	X.37:g.27766084G>T	ENSP00000462745:p.Val358Leu						p.V358L	NM_001136533.1	NP_001130005.1					5	1471	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1072G>T	CCDS59162.1																																																																																				0.448	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		5	28	1	0	0.000602214	1	0.000602214	5	28				
FBXO9	26268	broad.mit.edu	37	6	52945836	52945836	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr6:52945836C>G	ENST00000244426.6	+	5	680	c.508C>G	c.(508-510)Cag>Gag	p.Q170E	FBXO9_ENST00000370939.3_Missense_Mutation_p.Q126E|FBXO9_ENST00000323557.7_Missense_Mutation_p.Q160E	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	170					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					ACTCACATTTCAGGAGTCTGT	0.393																																						ENST00000244426.6																			0				kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9						c.(508-510)Cag>Gag		F-box protein 9							126.0	124.0	124.0					6																	52945836		1952	4162	6114	SO:0001583	missense	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52945836C>G	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.508C>G	6.37:g.52945836C>G	ENSP00000244426:p.Gln170Glu					FBXO9_ENST00000370939.3_Missense_Mutation_p.Q126E|FBXO9_ENST00000323557.7_Missense_Mutation_p.Q160E	p.Q170E	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN			5	680	+	Lung NSC(77;0.103)		170					A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	c.508C>G	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378592	0.24944	.	.	ENSG00000112146	ENST00000498744;ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.76316	-1.0;-1.01;-1.01	5.06	5.06	0.68205	.	0.175312	0.52532	D	0.000069	T	0.56441	0.1985	L	0.50333	1.59	0.44323	D	0.997208	B;B;B	0.14805	0.001;0.011;0.002	B;B;B	0.15484	0.007;0.013;0.003	T	0.60737	-0.7204	10	0.02654	T	1	-0.6805	18.3638	0.90384	0.0:1.0:0.0:0.0	.	160;277;170	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	E	126;126;160;170	ENSP00000359977:Q126E;ENSP00000326968:Q160E;ENSP00000244426:Q170E	ENSP00000244426:Q170E	Q	+	1	0	FBXO9	53053795	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.579000	0.67457	2.495000	0.84180	0.591000	0.81541	CAG		0.393	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			10	56	0	0	0	1	0	10	56				
GOLIM4	27333	broad.mit.edu	37	3	167728142	167728142	+	Missense_Mutation	SNP	C	C	A	rs542482925		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr3:167728142C>A	ENST00000470487.1	-	16	2695	c.2006G>T	c.(2005-2007)cGa>cTa	p.R669L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.R641L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	669	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGTTCCTCTCGGCCTTTGGG	0.423																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2005-2007)cGa>cTa		golgi integral membrane protein 4							163.0	157.0	159.0					3																	167728142		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167728142C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.2006G>T	3.37:g.167728142C>A	ENSP00000417354:p.Arg669Leu					GOLIM4_ENST00000309027.4_Missense_Mutation_p.R641L	p.R669L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			16	2695	-			669			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.2006G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714822	0.30413	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.27	1.96	0.26148	.	0.651463	0.15824	N	0.242877	T	0.33818	0.0876	M	0.63428	1.95	0.09310	N	1	P;P	0.46142	0.873;0.873	B;B	0.42851	0.4;0.4	T	0.11743	-1.0575	9	0.30854	T	0.27	-5.8023	8.0632	0.30646	0.0:0.6342:0.0:0.3658	.	641;669	F8W785;O00461	.;GOLI4_HUMAN	L	669;641	.	ENSP00000309893:R641L	R	-	2	0	GOLIM4	169210836	0.901000	0.30685	0.145000	0.22337	0.010000	0.07245	0.251000	0.18257	0.709000	0.31976	-0.163000	0.13421	CGA		0.423	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			5	83	1	0	0.000157383	1	0.000160805	5	83				
DDX4	54514	broad.mit.edu	37	5	55082457	55082457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr5:55082457C>T	ENST00000505374.1	+	14	1068	c.976C>T	c.(976-978)Cga>Tga	p.R326*	DDX4_ENST00000353507.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R306*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.R177*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	326	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTGCAGGACGAGATTTGAT	0.413																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(976-978)Cga>Tga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							117.0	112.0	114.0					5																	55082457		2203	4300	6503	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55082457C>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.976C>T	5.37:g.55082457C>T	ENSP00000424838:p.Arg326*					DDX4_ENST00000511853.1_Nonsense_Mutation_p.R177*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R306*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.R292*	p.R326*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			14	1068	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	326			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.976C>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093870	0.94149	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	.	.	.	5.07	-0.303	0.12792	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3108	15.9128	0.79485	0.5997:0.4003:0.0:0.0	.	.	.	.	X	292;306;326;306;292;177	.	ENSP00000334167:R292X	R	+	1	2	DDX4	55118214	0.999000	0.42202	0.824000	0.32777	0.997000	0.91878	1.432000	0.34936	-0.258000	0.09446	0.591000	0.81541	CGA		0.413	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		4	83	0	0	0	1	0	4	83				
RBL1	5933	broad.mit.edu	37	20	35651085	35651085	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr20:35651085G>A	ENST00000373664.3	-	17	2593	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F	RBL1_ENST00000344359.3_Missense_Mutation_p.L843F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	843	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAAAGGAGGAGCTGATCCAAA	0.418																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2527-2529)Ctc>Ttc		retinoblastoma-like 1 (p107)							118.0	113.0	115.0					20																	35651085		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35651085G>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2527C>T	20.37:g.35651085G>A	ENSP00000362768:p.Leu843Phe					RBL1_ENST00000344359.3_Missense_Mutation_p.L843F	p.L843F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			17	2593	-		Myeloproliferative disorder(115;0.00878)	843			Domain B.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2527C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062371	0.93898	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92752	-3.1;-3.1	5.39	5.39	0.77823	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	D	0.96901	0.9660	10	0.72032	D	0.01	-7.7152	19.175	0.93600	0.0:0.0:1.0:0.0	.	843;843	P28749-2;P28749	.;RBL1_HUMAN	F	843	ENSP00000362768:L843F;ENSP00000343646:L843F	ENSP00000343646:L843F	L	-	1	0	RBL1	35084499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.812000	0.86109	2.541000	0.85698	0.555000	0.69702	CTC		0.418	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		6	71	0	0	0	1	0	6	71				
SLC2A1	6513	broad.mit.edu	37	1	43395605	43395605	+	Silent	SNP	G	G	A			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:43395605G>A	ENST00000426263.3	-	5	796	c.618C>T	c.(616-618)ttC>ttT	p.F206F	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	206					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TCTCGGGGCAGAAGGGCAGCA	0.642																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(616-618)ttC>ttT		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						86.0	83.0	84.0					1																	43395605		2203	4300	6503	SO:0001819	synonymous_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395605G>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.618C>T	1.37:g.43395605G>A						SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	p.F206F	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			5	796	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	206					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	ENST00000426263.3	37	c.618C>T	CCDS477.1																																																																																				0.642	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		5	86	0	0	0	1	0	5	86				
AP4E1	23431	broad.mit.edu	37	15	51250835	51250835	+	Silent	SNP	G	G	T	rs528918348		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr15:51250835G>T	ENST00000261842.5	+	14	1801	c.1695G>T	c.(1693-1695)gcG>gcT	p.A565A	AP4E1_ENST00000560508.1_Silent_p.A490A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	565					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CATCTCAGGCGCACTCTTCTA	0.353																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1693-1695)gcG>gcT		adaptor-related protein complex 4, epsilon 1 subunit							111.0	110.0	110.0					15																	51250835		2196	4294	6490	SO:0001819	synonymous_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51250835G>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1695G>T	15.37:g.51250835G>T						AP4E1_ENST00000560508.1_Silent_p.A490A	p.A565A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	14	1801	+			565					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	ENST00000261842.5	37	c.1695G>T	CCDS32240.1																																																																																				0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			17	42	1	0	3.45872e-05	1	3.61244e-05	17	42				
MIA3	375056	broad.mit.edu	37	1	222803243	222803243	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:222803243C>T	ENST00000344922.5	+	4	2706	c.2681C>T	c.(2680-2682)tCt>tTt	p.S894F	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S894F	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	894					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAGGGGTCTGCTGCTGCA	0.517																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(2680-2682)tCt>tTt		melanoma inhibitory activity family, member 3							43.0	43.0	43.0					1																	222803243		1962	4145	6107	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222803243C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2681C>T	1.37:g.222803243C>T	ENSP00000340900:p.Ser894Phe					MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S894F|MIA3_ENST00000344507.1_Intron	p.S894F	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2706	+			894					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.2681C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.480510	0.44044	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831	T;T	0.04917	3.53;3.53	5.13	2.15	0.27550	.	.	.	.	.	T	0.06188	0.0160	L	0.53249	1.67	0.09310	N	1	B;P	0.36199	0.011;0.543	B;B	0.31390	0.011;0.129	T	0.33445	-0.9868	9	0.40728	T	0.16	.	5.2312	0.15422	0.2851:0.5611:0.0:0.1538	.	894;894	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	F	894	ENSP00000340900:S894F;ENSP00000340587:S894F	ENSP00000325973:S894F	S	+	2	0	MIA3	220869866	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	1.257000	0.32932	0.240000	0.21263	-0.461000	0.05368	TCT		0.517	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		4	77	0	0	0	1	0	4	77				
FAM86B2	653333	broad.mit.edu	37	8	12286307	12286307	+	Missense_Mutation	SNP	T	T	C	rs2719492	byFrequency	TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr8:12286307T>C	ENST00000262365.4	-	6	576	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	193										endometrium(1)|kidney(2)	3						TGCTCGAGGATCCGGCTGTGA	0.602													N|||	2149	0.429113	0.5151	0.4524	5008	,	,		12361	0.3998		0.3738	False		,,,				2504	0.3834					ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(577-579)Atc>Gtc		family with sequence similarity 86, member B2							25.0	25.0	25.0					8																	12286307		229	838	1067	SO:0001583	missense	653333							g.chr8:12286307T>C		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.577A>G	8.37:g.12286307T>C	ENSP00000262365:p.Ile193Val					FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron	p.I193V	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			6	576	-			193						Missense_Mutation	SNP	ENST00000262365.4	37	c.577A>G	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.920349	0.00498	.	.	ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000527331	T;T;T	0.16073	2.37;2.37;2.37	1.16	0.202	0.15190	.	.	.	.	.	T	0.02418	0.0074	N	0.00219	-1.825	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	9	0.02654	T	1	.	4.1295	0.10143	0.0:0.5837:0.2408:0.1755	.	193	P0C5J1	F86B2_HUMAN	V	193;159;159	ENSP00000262365:I193V;ENSP00000283479:I159V;ENSP00000432491:I159V	ENSP00000262365:I193V	I	-	1	0	FAM86B2	12330678	0.997000	0.39634	0.178000	0.23040	0.042000	0.13812	3.640000	0.54350	-0.331000	0.08501	-3.466000	0.00035	ATC		0.602	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		3	32	0	0	0	1	0	3	32				
ZBTB8OS	339487	broad.mit.edu	37	1	33099302	33099302	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:33099302G>T	ENST00000468695.1	-	4	325	c.307C>A	c.(307-309)Cac>Aac	p.H103N	ZBTB8OS_ENST00000373501.2_Missense_Mutation_p.H91N|ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	91					tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	extracellular vesicular exosome (GO:0070062)|tRNA-splicing ligase complex (GO:0072669)	metal ion binding (GO:0046872)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCCAAAAAGTGAAACAGAAGA	0.318																																						ENST00000468695.1																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(307-309)Cac>Aac		zinc finger and BTB domain containing 8 opposite strand							53.0	56.0	55.0					1																	33099302		2203	4300	6503	SO:0001583	missense	339487							g.chr1:33099302G>T	AY151084	CCDS365.1	1p35.1	2010-09-30			ENSG00000176261	ENSG00000176261			24094	protein-coding gene	gene with protein product	"""archease"""	615891				12477932	Standard	NM_178547		Approved	ARCH	uc001bvp.3	Q8IWT0	OTTHUMG00000007856	ENST00000468695.1:c.307C>A	1.37:g.33099302G>T	ENSP00000417677:p.His103Asn					ZBTB8OS_ENST00000373501.2_Missense_Mutation_p.H91N|ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron	p.H103N	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN			4	325	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	91					Q5TGK5|Q6PDA1|Q8IWS9|Q8NEV6|Q8NEV7	Missense_Mutation	SNP	ENST00000468695.1	37	c.307C>A	CCDS365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.09|14.09	2.431925|2.431925	0.43122|0.43122	.|.	.|.	ENSG00000176261|ENSG00000176261	ENST00000468695;ENST00000373501|ENST00000436661	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.042928|.	0.85682|.	D|.	0.000000|.	T|.	0.55016|.	0.1894|.	N|N	0.20881|0.20881	0.62|0.62	0.80722|0.80722	D|D	1|1	B;B|.	0.18166|.	0.003;0.026|.	B;B|.	0.18561|.	0.006;0.022|.	T|.	0.48681|.	-0.9014|.	9|.	0.16896|.	T|.	0.51|.	-16.3216|-16.3216	18.5382|18.5382	0.91018|0.91018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	91;103|.	Q8IWT0-2;A8K0B5|.	.;.|.	N|X	103;91|101	.|.	ENSP00000362600:H91N|.	H|S	-|-	1|2	0|0	ZBTB8OS|ZBTB8OS	32871889|32871889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.536000|4.536000	0.60636|0.60636	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.318	ZBTB8OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021669.3	NM_178547		5	43	1	0	1.23904e-05	1	1.32352e-05	5	43				
AKT1	207	broad.mit.edu	37	14	105246445	105246445	+	Missense_Mutation	SNP	A	A	C			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr14:105246445A>C	ENST00000554581.1	-	2	1635	c.155T>G	c.(154-156)cTc>cGc	p.L52R	AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.L52R|AKT1_ENST00000554848.1_Missense_Mutation_p.L52R|AKT1_ENST00000407796.2_Missense_Mutation_p.L52R|AKT1_ENST00000555528.1_Missense_Mutation_p.L52R|AKT1_ENST00000349310.3_Missense_Mutation_p.L52R			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	52	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L52R(2)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GAAGTTGTTGAGGGGAGCCTC	0.592		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		2	Substitution - Missense(2)	p.L52R(2)	NS(1)|breast(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(154-156)cTc>cGc		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						123.0	109.0	114.0					14																	105246445		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246445A>C	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.155T>G	14.37:g.105246445A>C	ENSP00000451828:p.Leu52Arg					AKT1_ENST00000555528.1_Missense_Mutation_p.L52R|AKT1_ENST00000554848.1_Missense_Mutation_p.L52R|AKT1_ENST00000407796.2_Missense_Mutation_p.L52R|AKT1_ENST00000402615.2_Missense_Mutation_p.L52R|AKT1_ENST00000349310.3_Missense_Mutation_p.L52R	p.L52R			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1635	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	52			PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.155T>G	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211549	0.58343	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000003	T	0.64681	0.2620	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.68443	-0.5407	10	0.87932	D	0	.	13.2474	0.60029	1.0:0.0:0.0:0.0	.	52	P31749	AKT1_HUMAN	R	52	ENSP00000451828:L52R;ENSP00000384293:L52R;ENSP00000270202:L52R;ENSP00000385326:L52R;ENSP00000450688:L52R;ENSP00000451166:L52R;ENSP00000451824:L52R	ENSP00000270202:L52R	L	-	2	0	AKT1	104317490	1.000000	0.71417	0.690000	0.30148	0.144000	0.21451	5.545000	0.67237	2.004000	0.58718	0.379000	0.24179	CTC		0.592	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		12	28	0	0	0	1	0	12	28				
FGF13	2258	broad.mit.edu	37	X	137717796	137717796	+	Silent	SNP	G	G	A			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chrX:137717796G>A	ENST00000315930.6	-	4	1084	c.423C>T	c.(421-423)tgC>tgT	p.C141C	FGF13_ENST00000305414.4_Silent_p.C88C|FGF13_ENST00000370603.3_Silent_p.C151C|FGF13_ENST00000441825.2_Silent_p.C122C|FGF13_ENST00000541469.1_Silent_p.C95C	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	141	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTTGAATTTGCACTCAGGTG	0.368																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(421-423)tgC>tgT		fibroblast growth factor 13							62.0	54.0	57.0					X																	137717796		2203	4300	6503	SO:0001819	synonymous_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137717796G>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.423C>T	X.37:g.137717796G>A						FGF13_ENST00000370603.3_Silent_p.C151C|FGF13_ENST00000541469.1_Silent_p.C95C|FGF13_ENST00000441825.2_Silent_p.C122C|FGF13_ENST00000305414.4_Silent_p.C88C	p.C141C	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN			4	1084	-	Acute lymphoblastic leukemia(192;0.000127)		141					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	c.423C>T	CCDS14665.1																																																																																				0.368	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		12	35	0	0	0	1	0	12	35				
CCDC158	339965	broad.mit.edu	37	4	77247129	77247129	+	Missense_Mutation	SNP	T	T	C	rs201687534	byFrequency	TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr4:77247129T>C	ENST00000388914.3	-	22	3190	c.3038A>G	c.(3037-3039)aAt>aGt	p.N1013S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1013	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGGAGAAGAATTGAATGAACG	0.368													T|||	2	0.000399361	0.0	0.0	5008	,	,		19996	0.0		0.002	False		,,,				2504	0.0					ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(3037-3039)aAt>aGt		coiled-coil domain containing 158							156.0	150.0	152.0					4																	77247129		1846	4091	5937	SO:0001583	missense	339965							g.chr4:77247129T>C	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3038A>G	4.37:g.77247129T>C	ENSP00000373566:p.Asn1013Ser						p.N1013S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			22	3190	-			1013			Ser-rich.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.3038A>G	CCDS43242.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	0.029	-1.349100	0.01266	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.26373	1.74	4.53	-2.59	0.06209	.	1.118960	0.06681	N	0.767908	T	0.11024	0.0269	N	0.08118	0	0.54753	D	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.25950	-1.0117	10	0.24483	T	0.36	.	5.2175	0.15350	0.0:0.4061:0.1676:0.4263	.	1013	Q5M9N0	CD158_HUMAN	S	1013;433	ENSP00000373566:N1013S	ENSP00000316815:N433S	N	-	2	0	CCDC158	77466153	0.938000	0.31826	0.991000	0.47740	0.029000	0.11900	-0.351000	0.07711	-0.259000	0.09432	-0.375000	0.07067	AAT		0.368	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		50	95	0	0	0	1	0	50	95				
KANK2	25959	broad.mit.edu	37	19	11304503	11304503	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr19:11304503C>T	ENST00000586659.1	-	4	567	c.253G>A	c.(253-255)Gag>Aag	p.E85K	KANK2_ENST00000355150.5_Missense_Mutation_p.E85K|KANK2_ENST00000589894.1_Missense_Mutation_p.E85K|KANK2_ENST00000432929.2_Missense_Mutation_p.E85K|KANK2_ENST00000589359.1_Missense_Mutation_p.E85K			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	85					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACAGCGACTCAGTGGACGTC	0.677																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(253-255)Gag>Aag		KN motif and ankyrin repeat domains 2							35.0	37.0	37.0					19																	11304503		2203	4298	6501	SO:0001583	missense	25959							g.chr19:11304503C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.253G>A	19.37:g.11304503C>T	ENSP00000465650:p.Glu85Lys					KANK2_ENST00000355150.5_Missense_Mutation_p.E85K|KANK2_ENST00000586659.1_Missense_Mutation_p.E85K|KANK2_ENST00000589894.1_Missense_Mutation_p.E85K|KANK2_ENST00000589359.1_Missense_Mutation_p.E85K	p.E85K	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	613	-			85					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.253G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027952	0.93518	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.63417	-0.04;-0.02	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	M	0.74881	2.28	0.49051	D	0.999744	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.80764	0.99;0.954;0.994	T	0.81929	-0.0708	10	0.72032	D	0.01	-32.3734	15.7129	0.77644	0.0:1.0:0.0:0.0	.	85;85;85	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	K	85	ENSP00000395650:E85K;ENSP00000347276:E85K	ENSP00000347276:E85K	E	-	1	0	KANK2	11165503	1.000000	0.71417	0.959000	0.39883	0.919000	0.55068	7.136000	0.77285	1.986000	0.57962	0.462000	0.41574	GAG		0.677	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		6	86	0	0	0	1	0	6	86				
ZNF724P	440519	broad.mit.edu	37	19	23405665	23405665	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr19:23405665C>T	ENST00000418100.1	-	4	1499	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GTTTGAGGACCGCTTAAAAGC	0.383																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1381-1383)cGg>cAg																																						SO:0001583	missense	0							g.chr19:23405665C>T			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1382G>A	19.37:g.23405665C>T	ENSP00000413411:p.Arg461Gln						p.R461Q							4	1499	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.1382G>A		.	.	.	.	.	.	.	.	.	.	C	0.001	-3.162417	0.00028	.	.	ENSG00000196081	ENST00000418100	T	0.07444	3.19	1.08	-2.16	0.07080	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02304	0.0071	.	.	.	0.09310	N	1	B	0.23377	0.084	B	0.04013	0.001	T	0.42103	-0.9471	8	0.02654	T	1	.	3.1902	0.06614	0.0:0.3985:0.2425:0.3591	.	461	A8MTY0	ZN724_HUMAN	Q	461	ENSP00000413411:R461Q	ENSP00000413411:R461Q	R	-	2	0	ZNF724P	23197505	0.000000	0.05858	0.017000	0.16124	0.015000	0.08874	-3.159000	0.00578	-0.662000	0.05338	-0.678000	0.03780	CGG		0.383	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			27	46	0	0	0	1	0	27	46				
MIB2	142678	broad.mit.edu	37	1	1560433	1560433	+	Missense_Mutation	SNP	A	A	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:1560433A>T	ENST00000357210.4	+	6	979	c.763A>T	c.(763-765)Agt>Tgt	p.S255C	MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378708.1_Missense_Mutation_p.S197C|MIB2_ENST00000520777.1_Missense_Mutation_p.S312C|MIB2_ENST00000504599.1_Missense_Mutation_p.S211C|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000360522.4_Missense_Mutation_p.S255C|MIB2_ENST00000355826.5_Missense_Mutation_p.S298C|MIB2_ENST00000505820.2_Missense_Mutation_p.S312C|MIB2_ENST00000378710.3_Missense_Mutation_p.S255C	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	255	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACAGGCCGGAGTGTGGCCAG	0.662																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(763-765)Agt>Tgt		mindbomb E3 ubiquitin protein ligase 2							61.0	72.0	68.0					1																	1560433		2200	4298	6498	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1560433A>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.763A>T	1.37:g.1560433A>T	ENSP00000349741:p.Ser255Cys					MIB2_ENST00000378712.1_Intron|MIB2_ENST00000520777.1_Missense_Mutation_p.S312C|MIB2_ENST00000360522.4_Missense_Mutation_p.S255C|MIB2_ENST00000378710.3_Missense_Mutation_p.S255C|MIB2_ENST00000355826.5_Missense_Mutation_p.S298C|MIB2_ENST00000378708.1_Missense_Mutation_p.S197C|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000505820.2_Missense_Mutation_p.S312C|MIB2_ENST00000504599.1_Missense_Mutation_p.S211C	p.S255C	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	979	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	255			MIB/HERC2 2.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.763A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.98|19.98	3.926845|3.926845	0.73327|0.73327	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000514234|ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000505820;ENST00000504599;ENST00000378708	.|T;T;T;T;T;T;T;T	.|0.46451	.|0.87;0.91;0.96;0.97;0.89;0.87;0.91;1.0	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Mib-herc2 (2);	.|0.091767	.|0.64402	.|D	.|0.000001	T|T	0.66877|0.66877	0.2834|0.2834	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.996;0.998;0.995;0.992	.|D;D;P;D	.|0.70487	.|0.967;0.926;0.878;0.969	T|T	0.73563|0.73563	-0.3943|-0.3943	5|10	.|0.87932	.|D	.|0	-0.0015|-0.0015	13.8918|13.8918	0.63744|0.63744	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|255;312;241;255	.|Q96AX9-5;E9PGU1;Q96AX9-2;Q96AX9	.|.;.;.;MIB2_HUMAN	V|C	105|312;255;255;255;298;312;211;197	.|ENSP00000428660:S312C;ENSP00000349741:S255C;ENSP00000353713:S255C;ENSP00000367982:S255C;ENSP00000348081:S298C;ENSP00000426103:S312C;ENSP00000426128:S211C;ENSP00000367980:S197C	.|ENSP00000348081:S298C	E|S	+|+	2|1	0|0	MIB2|MIB2	1550296|1550296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.879000|8.879000	0.92398|0.92398	1.880000|1.880000	0.54463|0.54463	0.379000|0.379000	0.24179|0.24179	GAG|AGT		0.662	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		32	47	0	0	0	1	0	32	47				
CDH26	60437	broad.mit.edu	37	20	58547113	58547113	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr20:58547113G>T	ENST00000244047.5	+	4	639	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	CDH26_ENST00000348616.4_Missense_Mutation_p.D110Y			Q8IXH8	CAD26_HUMAN	cadherin 26	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTCTCTAGAAGATCATGAGAA	0.383																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(328-330)Gat>Tat		cadherin 26							156.0	146.0	149.0					20																	58547113		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58547113G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.328G>T	20.37:g.58547113G>T	ENSP00000244047:p.Asp110Tyr					CDH26_ENST00000244047.5_Missense_Mutation_p.D110Y	p.D110Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		4	628	+	all_lung(29;0.00963)		110			Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.328G>T		.	.	.	.	.	.	.	.	.	.	.	21.8	4.204817	0.79127	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.66460	-0.21;-0.21	4.91	4.91	0.64330	.	0.297686	0.35525	N	0.003154	T	0.79753	0.4500	M	0.76328	2.33	0.47214	D	0.999358	D	0.52996	0.957	P	0.59889	0.865	T	0.82752	-0.0302	10	0.87932	D	0	.	17.2517	0.87044	0.0:0.0:1.0:0.0	.	110	Q8IXH8-4	.	Y	110	ENSP00000244047:D110Y;ENSP00000339390:D110Y	ENSP00000244047:D110Y	D	+	1	0	CDH26	57980508	1.000000	0.71417	0.920000	0.36463	0.888000	0.51559	2.132000	0.42083	2.437000	0.82529	0.650000	0.86243	GAT		0.383	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		9	38	1	0	1.12685e-05	1	1.23167e-05	9	38				
CRYL1	51084	broad.mit.edu	37	13	21006266	21006266	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr13:21006266A>G	ENST00000298248.7	-	5	670	c.608T>C	c.(607-609)aTc>aCc	p.I203T	MIR4499_ENST00000584834.1_RNA|CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000382812.1_Missense_Mutation_p.I181T	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	203					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GGCCTCGCTGATGATTGCATA	0.587																																						ENST00000382812.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(541-543)aTc>aCc		crystallin, lambda 1							60.0	67.0	65.0					13																	21006266		2101	4222	6323	SO:0001583	missense	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:21006266A>G	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.608T>C	13.37:g.21006266A>G	ENSP00000298248:p.Ile203Thr					CRYL1_ENST00000298248.7_Missense_Mutation_p.I203T|CRYL1_ENST00000480748.1_5'UTR	p.I181T			Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	6	770	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	203					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	c.542T>C	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192152	0.58017	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	D;D	0.89939	-2.59;-2.59	5.52	5.52	0.82312	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);3-hydroxyacyl-CoA dehydrogenase, conserved site (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.147080	0.64402	D	0.000012	D	0.90882	0.7135	M	0.63428	1.95	0.80722	D	1	B;P	0.39862	0.327;0.692	B;P	0.48334	0.263;0.574	D	0.91368	0.5117	10	0.59425	D	0.04	-24.4947	15.6494	0.77078	1.0:0.0:0.0:0.0	.	77;203	B4DWM9;Q9Y2S2	.;CRYL1_HUMAN	T	203;181	ENSP00000298248:I203T;ENSP00000372262:I181T	ENSP00000298248:I203T	I	-	2	0	CRYL1	19904266	1.000000	0.71417	0.924000	0.36721	0.961000	0.63080	7.720000	0.84759	2.087000	0.62958	0.459000	0.35465	ATC		0.587	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		20	32	0	0	0	1	0	20	32				
FMO3	2328	broad.mit.edu	37	1	171083277	171083277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:171083277G>T	ENST00000367755.4	+	7	1069	c.958G>T	c.(958-960)Gag>Tag	p.E320*	FMO3_ENST00000538429.1_Nonsense_Mutation_p.E257*|FMO3_ENST00000392085.2_Nonsense_Mutation_p.E320*|FMO3_ENST00000542847.1_Nonsense_Mutation_p.E300*	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	320					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GACCATATTTGAGGGCATTGA	0.433																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(958-960)Gag>Tag		flavin containing monooxygenase 3							158.0	143.0	148.0					1																	171083277		2203	4300	6503	SO:0001587	stop_gained	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083277G>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.958G>T	1.37:g.171083277G>T	ENSP00000356729:p.Glu320*					FMO3_ENST00000392085.2_Nonsense_Mutation_p.E320*|FMO3_ENST00000542847.1_Nonsense_Mutation_p.E300*|FMO3_ENST00000538429.1_Nonsense_Mutation_p.E257*	p.E320*	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			7	1069	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		320					B2R816|Q14854|Q8N5N5	Nonsense_Mutation	SNP	ENST00000367755.4	37	c.958G>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240686	0.79912	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	.	.	.	4.73	2.86	0.33363	.	0.199502	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-17.8591	10.5498	0.45081	0.1592:0.0:0.8408:0.0	.	.	.	.	X	320;320;300;257	.	ENSP00000356729:E320X	E	+	1	0	FMO3	169349901	1.000000	0.71417	0.998000	0.56505	0.301000	0.27625	3.035000	0.49759	0.519000	0.28406	0.650000	0.86243	GAG		0.433	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		41	67	1	0	9.84934e-19	1	1.10219e-18	41	67				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	69	0	0	0	1	0	4	69				
CPSF1	29894	broad.mit.edu	37	8	145624726	145624726	+	Silent	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr8:145624726C>T	ENST00000349769.3	-	14	1426	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	444					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACACTTCAATCTCGTCCACCT	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1330-1332)gaG>gaA		cleavage and polyadenylation specific factor 1, 160kDa							50.0	42.0	45.0					8																	145624726		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624726C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1332G>A	8.37:g.145624726C>T							p.E444E	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		14	1426	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		444					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.1332G>A	CCDS34966.1																																																																																				0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		8	22	0	0	0	1	0	8	22				
EPG5	57724	broad.mit.edu	37	18	43484051	43484051	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr18:43484051C>T	ENST00000282041.5	-	25	4395	c.4361G>A	c.(4360-4362)cGc>cAc	p.R1454H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1454					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.R1454H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGATAGATGCGCTCCATGTT	0.443																																						ENST00000282041.5																			1	Substitution - Missense(1)	p.R1454H(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4360-4362)cGc>cAc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							146.0	140.0	142.0					18																	43484051		1982	4168	6150	SO:0001583	missense	57724				autophagy			g.chr18:43484051C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4361G>A	18.37:g.43484051C>T	ENSP00000282041:p.Arg1454His					EPG5_ENST00000585906.1_5'UTR	p.R1454H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			25	4395	-			1454					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4361G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673560	0.88445	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11063	2.81	6.04	6.04	0.98038	.	.	.	.	.	T	0.29976	0.0750	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.00074	-1.2124	9	0.62326	D	0.03	-10.9235	16.2018	0.82087	0.1408:0.8592:0.0:0.0	.	1454	Q9HCE0	EPG5_HUMAN	H	1454;329	ENSP00000282041:R1454H	ENSP00000282041:R1454H	R	-	2	0	EPG5	41738049	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.041000	0.64196	2.873000	0.98535	0.563000	0.77884	CGC		0.443	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		27	57	0	0	0	1	0	27	57				
PKM	5315	broad.mit.edu	37	15	72494909	72494909	+	Missense_Mutation	SNP	A	A	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr15:72494909A>T	ENST00000335181.5	-	9	1296	c.1193T>A	c.(1192-1194)cTc>cAc	p.L398H	PKM_ENST00000568459.1_Intron|PKM_ENST00000449901.2_Missense_Mutation_p.L383H|PKM_ENST00000565154.1_Intron|PKM_ENST00000319622.6_Intron|PKM_ENST00000568883.1_Intron|PKM_ENST00000389093.3_Intron|PKM_ENST00000565184.1_Intron	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	398	Interaction with POU5F1.|Intersubunit contact.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CAGGCGGCGGAGTTCCTCAAA	0.612																																						ENST00000335181.5																			0				endometrium(1)|lung(7)	8						c.(1192-1194)cTc>cAc		pyruvate kinase, muscle							26.0	24.0	25.0					15																	72494909		2199	4297	6496	SO:0001583	missense	5315							g.chr15:72494909A>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1193T>A	15.37:g.72494909A>T	ENSP00000334983:p.Leu398His					PKM_ENST00000389093.3_Intron|PKM_ENST00000565184.1_Intron|PKM_ENST00000449901.2_Missense_Mutation_p.L383H|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Intron|PKM_ENST00000565154.1_Intron|PKM_ENST00000319622.6_Intron	p.L398H	NM_002654.4	NP_002645.3					9	1296	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.1193T>A	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651771	0.88056	.	.	ENSG00000067225	ENST00000335181;ENST00000434220;ENST00000449901	D;D	0.99158	-5.5;-5.5	5.18	5.18	0.71444	Pyruvate kinase, C-terminal (1);Pyruvate kinase, alpha/beta (1);	.	.	.	.	D	0.99236	0.9734	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.74674	0.984;0.975;0.926;0.984	D	0.99308	1.0903	9	0.87932	D	0	.	15.3263	0.74164	1.0:0.0:0.0:0.0	.	324;383;398;325	B4DNK4;B4DUU6;P14618;E9PF79	.;.;KPYM_HUMAN;.	H	398;325;383	ENSP00000334983:L398H;ENSP00000403365:L383H	ENSP00000334983:L398H	L	-	2	0	PKM2	70281963	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.339000	0.96797	2.084000	0.62774	0.459000	0.35465	CTC		0.612	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			4	20	0	0	0	1	0	4	20				
PIPSL	266971	broad.mit.edu	37	10	95721200	95721200	+	RNA	SNP	G	G	A	rs545508656		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr10:95721200G>A	ENST00000480546.1	-	0	97					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GGAAGGGACCGCGGGATCAAC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18352	0.001		0.0	False		,,,				2504	0.0					ENST00000480546.1																			0																																																			0							g.chr10:95721200G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95721200G>A								NR_002319.2						0	97	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.582	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		8	106	0	0	0	1	0	8	106				
KANK1	23189	broad.mit.edu	37	9	744525	744525	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr9:744525C>T	ENST00000382303.1	+	15	4584	c.3932C>T	c.(3931-3933)gCa>gTa	p.A1311V	KANK1_ENST00000382297.2_Missense_Mutation_p.A1311V|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A1153V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1311					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCCTGGAAGCAGGACACAAG	0.478																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3931-3933)gCa>gTa		KN motif and ankyrin repeat domains 1							163.0	138.0	146.0					9																	744525		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:744525C>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3932C>T	9.37:g.744525C>T	ENSP00000371740:p.Ala1311Val					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A1153V|KANK1_ENST00000382297.2_Missense_Mutation_p.A1311V	p.A1311V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	15	4584	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1311					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.3932C>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613029	0.87258	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.52983	0.64;0.64;0.64	6.02	6.02	0.97574	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000050	T	0.68595	0.3018	M	0.82193	2.58	0.80722	D	1	P;B;D	0.56521	0.72;0.163;0.976	P;B;P	0.55011	0.462;0.032;0.766	T	0.71659	-0.4526	10	0.72032	D	0.01	-8.7285	20.5407	0.99260	0.0:1.0:0.0:0.0	.	357;223;1311	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	V	1311;357;1311;1153;289;223	ENSP00000371740:A1311V;ENSP00000371734:A1311V;ENSP00000371730:A1153V	ENSP00000371723:A223V	A	+	2	0	KANK1	734525	1.000000	0.71417	0.399000	0.26333	0.993000	0.82548	7.731000	0.84895	2.865000	0.98341	0.655000	0.94253	GCA		0.478	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	88	0	0	0	1	0	4	88				
DCAF4L1	285429	broad.mit.edu	37	4	41984086	41984086	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr4:41984086G>A	ENST00000333141.5	+	1	374	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	93										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAACCAGGTCGAAGTCGAAGG	0.537																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(277-279)Gaa>Aaa		DDB1 and CUL4 associated factor 4-like 1							90.0	80.0	84.0					4																	41984086		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984086G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.277G>A	4.37:g.41984086G>A	ENSP00000327796:p.Glu93Lys						p.E93K	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	374	+			93					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.277G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	5.827	0.336772	0.11013	.	.	ENSG00000182308	ENST00000333141	T	0.37915	1.17	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.569183	0.21082	N	0.080475	T	0.10809	0.0264	N	0.05414	-0.055	0.24544	N	0.994052	B	0.33694	0.421	B	0.15052	0.012	T	0.35176	-0.9799	9	0.02654	T	1	.	.	.	.	.	93	Q3SXM0	DC4L1_HUMAN	K	93	ENSP00000327796:E93K	ENSP00000327796:E93K	E	+	1	0	DCAF4L1	41678843	1.000000	0.71417	0.283000	0.24790	0.697000	0.40408	3.091000	0.50199	0.635000	0.30488	0.313000	0.20887	GAA		0.537	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		19	50	0	0	0	1	0	19	50				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	43	0	0	0	1	0	26	43				
CSMD2	114784	broad.mit.edu	37	1	34076666	34076666	+	Silent	SNP	C	C	G			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr1:34076666C>G	ENST00000373380.1	-	20	3157	c.2937G>C	c.(2935-2937)cgG>cgC	p.R979R	CSMD2_ENST00000373377.1_Silent_p.R205R|CSMD2_ENST00000373388.2_Silent_p.R205R|CSMD2_ENST00000373381.4_Silent_p.R2106R			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2066	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAATCCTGGCCGATTCTGGG	0.567																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6316-6318)cgG>cgC		CUB and Sushi multiple domains 2							109.0	93.0	99.0					1																	34076666		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34076666C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2937G>C	1.37:g.34076666C>G						CSMD2_ENST00000373380.1_Silent_p.R979R|CSMD2_ENST00000373377.1_Silent_p.R205R|CSMD2_ENST00000373388.2_Silent_p.R205R	p.R2106R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			41	6494	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2066					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.6318G>C																																																																																					0.567	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		7	29	0	0	0	1	0	7	29				
FAM47C	442444	broad.mit.edu	37	X	37028585	37028585	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chrX:37028585G>A	ENST00000358047.3	+	1	2154	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	701										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGTGTCCCGTCTCCACCCA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2101-2103)cGt>cAt		family with sequence similarity 47, member C							50.0	49.0	49.0					X																	37028585		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028585G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2102G>A	X.37:g.37028585G>A	ENSP00000367913:p.Arg701His						p.R701H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2154	+			701					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2102G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.173	-1.069496	0.01918	.	.	ENSG00000198173	ENST00000358047	T	0.12879	2.64	1.03	-1.87	0.07737	.	.	.	.	.	T	0.04137	0.0115	N	0.01352	-0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.39313	-0.9620	9	0.39692	T	0.17	.	6.6045	0.22718	0.4044:0.0:0.5956:0.0	.	701	Q5HY64	FA47C_HUMAN	H	701	ENSP00000367913:R701H	ENSP00000367913:R701H	R	+	2	0	FAM47C	36938506	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.468000	0.06656	-1.790000	0.01263	-1.767000	0.00664	CGT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	135	0	0	0	1	0	4	135				
IQUB	154865	broad.mit.edu	37	7	123152231	123152231	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr7:123152231C>T	ENST00000466202.1	-	2	740	c.164G>A	c.(163-165)aGc>aAc	p.S55N	IQUB_ENST00000434450.1_Missense_Mutation_p.S55N|IQUB_ENST00000324698.6_Missense_Mutation_p.S55N|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	55					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATTGCATGGCTCTCACTGAA	0.423																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(163-165)aGc>aAc		IQ motif and ubiquitin domain containing							233.0	198.0	210.0					7																	123152231		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123152231C>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.164G>A	7.37:g.123152231C>T	ENSP00000417769:p.Ser55Asn					IQUB_ENST00000434450.1_Missense_Mutation_p.S55N|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.S55N	p.S55N			Q8NA54	IQUB_HUMAN			2	740	-			55					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.164G>A	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	6.734	0.504253	0.12822	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.42900	1.97;1.97;0.96	4.82	-1.07	0.09968	.	1.619340	0.03939	N	0.286630	T	0.23210	0.0561	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27625	0.183;0.063;0.038	B;B;B	0.21917	0.028;0.037;0.016	T	0.12578	-1.0542	10	0.31617	T	0.26	.	3.8972	0.09144	0.1782:0.2854:0.0:0.5364	.	55;55;55	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	N	55	ENSP00000417769:S55N;ENSP00000324882:S55N;ENSP00000388498:S55N	ENSP00000324882:S55N	S	-	2	0	IQUB	122939467	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.367000	0.02583	-0.058000	0.13177	-0.262000	0.10625	AGC		0.423	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		34	62	0	0	0	1	0	34	62				
COL5A3	50509	broad.mit.edu	37	19	10114761	10114761	+	Missense_Mutation	SNP	G	G	A	rs148469753		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr19:10114761G>A	ENST00000264828.3	-	5	740	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	219	Laminin G-like.|Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGAGGTACCGCTCACAAGCC	0.602																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(655-657)Cgg>Tgg		collagen, type V, alpha 3		G	TRP/ARG	0,4406		0,0,2203	108.0	90.0	97.0		655	-4.8	0.0	19	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	no	missense	COL5A3	NM_015719.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	219/1746	10114761	2,13004	2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114761G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.655C>T	19.37:g.10114761G>A	ENSP00000264828:p.Arg219Trp						p.R219W	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		5	740	-			219			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.655C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669424	0.47677	0.0	2.33E-4	ENSG00000080573	ENST00000264828	D	0.89681	-2.55	4.87	-4.76	0.03229	Concanavalin A-like lectin/glucanase (1);	1.128190	0.06808	N	0.789850	T	0.78685	0.4322	L	0.38175	1.15	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.71842	-0.4470	10	0.56958	D	0.05	.	10.1544	0.42814	0.0:0.117:0.2881:0.5948	.	219	P25940	CO5A3_HUMAN	W	219	ENSP00000264828:R219W	ENSP00000264828:R219W	R	-	1	2	COL5A3	9975761	0.000000	0.05858	0.020000	0.16555	0.480000	0.33159	-0.475000	0.06599	-0.362000	0.08113	0.449000	0.29647	CGG		0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		21	51	0	0	0	1	0	21	51				
INTS4L2	644619	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C	rs376935907		TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCTTCATCCCTCACCCCCCCCC	0.46																																						ENST00000430126.2																			0																																																			0							g.chr7:65150814_65150815insC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150815_65150815dupC														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.460	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		3	6						3	6	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-DE-A4MB-01A-11D-A257-08	TCGA-DE-A4MB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83ea1409-56e4-4ffb-beb2-9275a70e9bb5	ca920f65-56bb-4a76-935e-ceceb4767793	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				3	5						3	5	---	---	---	---
