#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
GPC1	2817	broad.mit.edu	37	2	241402796	241402796	+	Silent	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:241402796C>G	ENST00000264039.2	+	4	998	c.750C>G	c.(748-750)gtC>gtG	p.V250V		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	250					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CGAGAGCTGTCATGAAGCTGG	0.682																																						uc002vyw.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(748-750)gtC>gtG		Homo sapiens glypican 1 (GPC1), mRNA.							88.0	93.0	92.0					2																	241402796		2203	4300	6503	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241402796C>G	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.750C>G	2.37:g.241402796C>G							p.V250V	NM_002081	NP_002072	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	3	971	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	250					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.750C>G	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.814|8.814	0.935910|0.935910	0.18206|0.18206	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000425056	.|.	.|.	.|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	.|.	.|.	.|.	.|.	T|.	0.68439|.	0.3001|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67883|.	-0.5555|.	4|.	.|.	.|.	.|.	-42.0036|-42.0036	13.7026|13.7026	0.62618|0.62618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	290|246	.|.	.|.	H|S	+|+	1|2	0|0	GPC1|GPC1	241051469|241051469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	1.307000|1.307000	0.33516|0.33516	2.176000|2.176000	0.68965|0.68965	0.484000|0.484000	0.47621|0.47621	CAT|TCA		0.682	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		9	78	0	0	0	1	0	9	78				
RHOT2	89941	broad.mit.edu	37	16	720708	720708	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:720708A>G	ENST00000315082.4	+	9	688	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	192	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCTGACGCGCATCTTCAGGCT	0.682																																						uc002cip.3																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(574-576)Atc>Gtc		Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.							59.0	70.0	66.0					16																	720708		2201	4295	6496	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding	g.chr16:720708A>G	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.574A>G	16.37:g.720708A>G	ENSP00000321971:p.Ile192Val					RHOT2_uc002ciq.3_Missense_Mutation_p.I85V|RHOT2_uc010bqy.3_5'Flank	p.I192V	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN			8	691	+		Hepatocellular(780;0.0218)	192			EF-hand 1.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.574A>G	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947963	0.34377	.	.	ENSG00000140983	ENST00000315082	T	0.09723	2.95	4.81	3.72	0.42706	EF-hand-like domain (1);	0.045120	0.85682	N	0.000000	T	0.18759	0.0450	L	0.55017	1.72	0.50632	D	0.999883	P;P	0.46327	0.854;0.876	P;P	0.53593	0.73;0.463	T	0.00710	-1.1599	10	0.40728	T	0.16	-35.4721	9.4788	0.38889	0.9157:0.0:0.0843:0.0	.	65;192	Q8IXI1-2;Q8IXI1	.;MIRO2_HUMAN	V	192	ENSP00000321971:I192V	ENSP00000321971:I192V	I	+	1	0	RHOT2	660709	1.000000	0.71417	0.873000	0.34254	0.156000	0.22039	6.661000	0.74422	0.802000	0.34089	0.459000	0.35465	ATC		0.682	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		9	91	0	0	0	1	0	9	91				
DNAAF2	55172	broad.mit.edu	37	14	50100226	50100226	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr14:50100226G>A	ENST00000298292.8	-	1	1722	c.1642C>T	c.(1642-1644)Ctt>Ttt	p.L548F	DNAAF2_ENST00000406043.3_Missense_Mutation_p.L548F	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	548					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TCTCCTTGAAGACTTTGCGGC	0.458																																						uc001wws.4																			0				kidney(1)|lung(4)	5						c.(1642-1644)Ctt>Ttt		Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA.							53.0	53.0	53.0					14																	50100226		2203	4300	6503	SO:0001583	missense	55172				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50100226G>A	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1642C>T	14.37:g.50100226G>A	ENSP00000298292:p.Leu548Phe					NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.L548F	p.L548F	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			0	1723	-			548					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.1642C>T	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	g	27.7	4.855948	0.91355	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.16196	2.36;2.36	5.27	5.27	0.74061	.	0.347351	0.20565	N	0.089833	T	0.32496	0.0831	L	0.29908	0.895	0.39181	D	0.962771	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.10337	-1.0634	10	0.87932	D	0	.	17.4878	0.87693	0.0:0.0:1.0:0.0	.	548;548	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	F	548	ENSP00000298292:L548F;ENSP00000384862:L548F	ENSP00000298292:L548F	L	-	1	0	DNAAF2	49169976	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.916000	0.28651	2.643000	0.89663	0.555000	0.69702	CTT		0.458	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			4	33	0	0	0	1	0	4	33				
FTO	79068	broad.mit.edu	37	16	53968001	53968001	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:53968001G>A	ENST00000471389.1	+	8	1566	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	FTO_ENST00000463855.1_Silent_p.L70L|FTO_ENST00000431610.2_Silent_p.L49L|FTO_ENST00000460382.1_Silent_p.L49L|FTO_ENST00000394647.3_Silent_p.L152L	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	448					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAACCTGAGGAGAGAAT	0.478																																						uc002ehr.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1342-1344)ctG>ctA		Homo sapiens fat mass and obesity associated (FTO), mRNA.							105.0	84.0	91.0					16																	53968001		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|RNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53968001G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1344G>A	16.37:g.53968001G>A						FTO_uc010vha.2_Silent_p.L152L|FTO_uc010cbz.3_Silent_p.L49L|FTO_uc002ehs.3_Non-coding_Transcript	p.L448L	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			7	1566	+			448					A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.1344G>A	CCDS32448.1																																																																																				0.478	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		7	39	0	0	0	1	0	7	39				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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	NP_004324	P15056	BRAF_HUMAN			14	1860	-	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		23	56	0	0	0	1	0	23	56				
DLG5	9231	broad.mit.edu	37	10	79593779	79593779	+	Silent	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:79593779C>G	ENST00000372391.2	-	9	1646	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L	DLG5_ENST00000372388.2_Silent_p.L547L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	547					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCCCGCCTCAGGTTGTCAC	0.632																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1639-1641)ctG>ctC		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							38.0	33.0	35.0					10																	79593779		2202	4300	6502	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79593779C>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1641G>C	10.37:g.79593779C>G						DLG5_uc001jzj.3_Silent_p.L302L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.L151L	p.L547L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		8	1711	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		547					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.1641G>C	CCDS7353.2																																																																																				0.632	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			3	22	0	0	0	1	0	3	22				
CTCF	10664	broad.mit.edu	37	16	67663378	67663378	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:67663378G>C	ENST00000264010.4	+	10	2223	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	CTCF_ENST00000401394.1_Missense_Mutation_p.K265N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	593					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAACGAAGAAGAGTAAACGTG	0.423																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.3																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1777-1779)aaG>aaC		Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.							170.0	155.0	160.0					16																	67663378		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663378G>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1779G>C	16.37:g.67663378G>C	ENSP00000264010:p.Lys593Asn					CTCF_uc010cek.3_Missense_Mutation_p.K265N|CTCF_uc002etm.1_Missense_Mutation_p.K82N	p.K593N	NM_006565	NP_001177951	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2223	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	593					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1779G>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908093	0.72868	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.09630	2.96;3.01	5.54	0.861	0.19048	.	0.000000	0.64402	D	0.000002	T	0.09512	0.0234	N	0.24115	0.695	0.50632	D	0.999889	P;P	0.45531	0.86;0.608	P;B	0.46362	0.514;0.19	T	0.14587	-1.0467	10	0.45353	T	0.12	-4.7368	11.4115	0.49929	0.2948:0.0:0.7052:0.0	.	265;593	B5MC38;P49711	.;CTCF_HUMAN	N	593;265	ENSP00000264010:K593N;ENSP00000384707:K265N	ENSP00000264010:K593N	K	+	3	2	CTCF	66220879	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	0.506000	0.22658	0.320000	0.23234	0.313000	0.20887	AAG		0.423	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		4	50	0	0	0	1	0	4	50				
SCG3	29106	broad.mit.edu	37	15	51984517	51984517	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr15:51984517G>A	ENST00000220478.3	+	7	1255	c.852G>A	c.(850-852)ctG>ctA	p.L284L	RP11-313P18.2_ENST00000559918.1_lincRNA|SCG3_ENST00000542355.2_Silent_p.L52L	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	284					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATGCGCTACTGAAAAGTATTG	0.383																																						uc002abh.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(850-852)ctG>ctA		Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.							87.0	90.0	89.0					15																	51984517		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51984517G>A	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.852G>A	15.37:g.51984517G>A						SCG3_uc010ufz.2_Silent_p.L52L	p.L284L	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	6	1255	+			284					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.852G>A	CCDS10142.1																																																																																				0.383	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		7	76	0	0	0	1	0	7	76				
MPV17	4358	broad.mit.edu	37	2	27535568	27535568	+	Silent	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:27535568C>T	ENST00000380044.1	-	4	313	c.258G>A	c.(256-258)ctG>ctA	p.L86L	MPV17_ENST00000357186.6_Silent_p.L30L|MPV17_ENST00000405983.1_Silent_p.L101L|MPV17_ENST00000405076.1_Intron|MPV17_ENST00000402722.1_Missense_Mutation_p.E75K|MPV17_ENST00000233545.2_Silent_p.L86L|MPV17_ENST00000403262.2_Silent_p.L86L|MPV17_ENST00000402310.1_Silent_p.L86L	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	86					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCTTCTTCAGTGCATCCA	0.527																																						uc002rjr.3																			0				lung(4)	4						c.(256-258)ctG>ctA		Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.							217.0	215.0	215.0					2																	27535568		2203	4300	6503	SO:0001819	synonymous_variant	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27535568C>T		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"""glomerulosclerosis"""	137960	"""MpV17 transgene, murine homolog, glomerulosclerosis"""			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.258G>A	2.37:g.27535568C>T						MPV17_uc002rjs.3_Silent_p.L86L|MPV17_uc002rjt.3_Non-coding_Transcript	p.L86L	NM_002437	NP_002428	P39210	MPV17_HUMAN			2	305	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		86					D6W555|Q53SY2|Q96B08	Silent	SNP	ENST00000380044.1	37	c.258G>A	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300081	0.40694	.	.	ENSG00000115204	ENST00000402722	T	0.80214	-1.35	5.58	-4.11	0.03928	.	.	.	.	.	T	0.81014	0.4735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77161	-0.2689	6	0.87932	D	0	.	8.3886	0.32516	0.0:0.7326:0.1669:0.1005	.	.	.	.	K	75	ENSP00000386000:E75K	ENSP00000386000:E75K	E	-	1	0	MPV17	27389072	0.005000	0.15991	0.441000	0.26858	0.768000	0.43524	-1.650000	0.01991	-1.359000	0.02174	-0.253000	0.11424	GAA		0.527	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		5	43	0	0	0	1	0	5	43				
LYZL6	57151	broad.mit.edu	37	17	34264854	34264854	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr17:34264854C>G	ENST00000585556.1	-	3	540	c.206G>C	c.(205-207)aGc>aCc	p.S69T	LYZL6_ENST00000394523.3_Missense_Mutation_p.S69T|LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000293274.4_Missense_Mutation_p.S69T			O75951	LYZL6_HUMAN	lysozyme-like 6	69					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAGTCAAAGCTTCCATCTGC	0.448																																						uc002hkj.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12						c.(205-207)aGc>aCc		Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.							107.0	104.0	105.0					17																	34264854		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34264854C>G	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.206G>C	17.37:g.34264854C>G	ENSP00000468094:p.Ser69Thr					LYZL6_uc002hkk.2_Missense_Mutation_p.S69T	p.S69T	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	406	-			69					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.206G>C	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613436	0.46631	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.55588	0.51;0.51	5.2	4.22	0.49857	Lysozyme-like domain (1);	0.297243	0.31279	N	0.007927	T	0.56352	0.1979	L	0.49513	1.565	0.36096	D	0.84377	P	0.40534	0.72	P	0.48524	0.58	T	0.67814	-0.5573	10	0.66056	D	0.02	-6.6305	12.3001	0.54870	0.0:0.83:0.17:0.0	.	69	O75951	LYZL6_HUMAN	T	69	ENSP00000293274:S69T;ENSP00000378031:S69T	ENSP00000293274:S69T	S	-	2	0	LYZL6	31288967	1.000000	0.71417	0.860000	0.33809	0.392000	0.30506	1.639000	0.37176	1.306000	0.44926	0.655000	0.94253	AGC		0.448	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		8	46	0	0	0	1	0	8	46				
AHNAK2	113146	broad.mit.edu	37	14	105418953	105418953	+	Silent	SNP	C	C	G	rs538798371		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr14:105418953C>G	ENST00000333244.5	-	7	2954	c.2835G>C	c.(2833-2835)ctG>ctC	p.L945L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	945						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L945L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602																																						uc010axc.1																			1	Substitution - coding silent(1)	p.L945L(1)	lung(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2833-2835)ctG>ctC		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							137.0	159.0	152.0					14																	105418953		1873	4097	5970	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418953C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2835G>C	14.37:g.105418953C>G						AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L845L	p.L945L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	2955	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	945					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2835G>C	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		22	186	0	0	0	1	0	22	186				
ARAP3	64411	broad.mit.edu	37	5	141039378	141039378	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:141039378C>G	ENST00000239440.4	-	22	3300	c.3235G>C	c.(3235-3237)Gag>Cag	p.E1079Q	ARAP3_ENST00000508305.1_Missense_Mutation_p.E910Q|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.E741Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1079	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCAATGAGCTCTTGCAGCACT	0.567																																						uc003llm.3																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3235-3237)Gag>Cag		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							72.0	66.0	68.0					5																	141039378		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr5:141039378C>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3235G>C	5.37:g.141039378C>G	ENSP00000239440:p.Glu1079Gln					ARAP3_uc003lll.3_Missense_Mutation_p.E30Q|ARAP3_uc011dbe.2_Missense_Mutation_p.E741Q|ARAP3_uc003lln.3_Missense_Mutation_p.E910Q	p.E1079Q	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			21	3313	-			1079			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3235G>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727347	0.89390	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11169	2.8;2.8;2.8	5.19	5.19	0.71726	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.060418	0.64402	D	0.000008	T	0.15392	0.0371	N	0.14661	0.345	0.52501	D	0.999958	D;D;D	0.63880	0.979;0.981;0.993	P;P;P	0.55508	0.601;0.73;0.777	T	0.04870	-1.0921	10	0.72032	D	0.01	.	18.5136	0.90926	0.0:1.0:0.0:0.0	.	741;910;1079	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	910;1079;741	ENSP00000421826:E910Q;ENSP00000239440:E1079Q;ENSP00000421468:E741Q	ENSP00000239440:E1079Q	E	-	1	0	ARAP3	141019562	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.226000	0.78060	2.711000	0.92665	0.655000	0.94253	GAG		0.567	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		3	19	0	0	0	1	0	3	19				
PPP1R21	129285	broad.mit.edu	37	2	48725770	48725770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:48725770C>T	ENST00000294952.8	+	17	1988	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Q611*|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Q580*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	611						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						AGGTAGTGCCCAGCTGGTTGG	0.483																																						uc002rwm.3																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1831-1833)Cag>Tag		Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.							104.0	97.0	99.0					2																	48725770		2203	4300	6503	SO:0001587	stop_gained	129285							g.chr2:48725770C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1831C>T	2.37:g.48725770C>T	ENSP00000294952:p.Gln611*					PPP1R21_uc002rwl.3_Nonsense_Mutation_p.Q565*|PPP1R21_uc002rwk.3_Nonsense_Mutation_p.Q611*|PPP1R21_uc010yok.2_Nonsense_Mutation_p.Q580*	p.Q611*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			16	2016	+			611					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	c.1831C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698474	0.88830	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.87	5.87	0.94306	.	0.365763	0.32244	N	0.006370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-18.3415	20.2182	0.98305	0.0:1.0:0.0:0.0	.	.	.	.	X	611;611;580	.	ENSP00000281394:Q611X	Q	+	1	0	KLRAQ1	48579274	1.000000	0.71417	0.992000	0.48379	0.223000	0.24884	4.709000	0.61867	2.785000	0.95823	0.655000	0.94253	CAG		0.483	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		3	34	0	0	0	1	0	3	34				
C5orf42	65250	broad.mit.edu	37	5	37173962	37173962	+	Silent	SNP	A	A	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:37173962A>C	ENST00000508244.1	-	31	6159	c.6066T>G	c.(6064-6066)gcT>gcG	p.A2022A	C5orf42_ENST00000425232.2_Silent_p.A2022A|C5orf42_ENST00000274258.7_Silent_p.A902A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2022						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGGTGTTGGAGCAGGTGGTT	0.423																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(6064-6066)gcT>gcG		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							145.0	138.0	141.0					5																	37173962		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37173962A>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6066T>G	5.37:g.37173962A>C						C5orf42_uc011coy.1_Silent_p.A522A|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.A1097A|C5orf42_uc003jkr.1_Silent_p.A55A	p.A2022A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		31	6297	-	all_lung(31;0.000616)		2022					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.6066T>G	CCDS34146.2																																																																																				0.423	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		10	61	0	0	0	1	0	10	61				
MGMT	4255	broad.mit.edu	37	10	131506231	131506231	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:131506231G>A	ENST00000306010.7	+	3	323	c.291G>A	c.(289-291)ctG>ctA	p.L97L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	66					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CAGCCTGGCTGAATGCCTATT	0.602								Direct reversal of damage																														uc001lkh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(289-291)ctG>ctA	Direct reversal of damage	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.							97.0	98.0	97.0					10																	131506231		2203	4300	6503	SO:0001819	synonymous_variant	4255							g.chr10:131506231G>A	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.291G>A	10.37:g.131506231G>A							p.L97L	NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	2	317	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	97					Q5VY78	Silent	SNP	ENST00000306010.7	37	c.291G>A	CCDS7660.2																																																																																				0.602	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		7	64	0	0	0	1	0	7	64				
UQCRC2	7385	broad.mit.edu	37	16	21974204	21974204	+	Missense_Mutation	SNP	C	C	T	rs202168192		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:21974204C>T	ENST00000268379.4	+	6	1276	c.512C>T	c.(511-513)aCt>aTt	p.T171I	UQCRC2_ENST00000561553.1_Missense_Mutation_p.T171I	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	171					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATCCGCAGACTCGTAAGTAC	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17321	0.0		0.0	False		,,,				2504	0.0				Colon(123;450 1645 12841 25393 45623)	uc002djx.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(511-513)aCt>aTt		Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.							67.0	61.0	63.0					16																	21974204		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21974204C>T	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.512C>T	16.37:g.21974204C>T	ENSP00000268379:p.Thr171Ile					UQCRC2_uc002djz.1_Missense_Mutation_p.T38I	p.T171I	NM_003366	NP_003357	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	5	648	+			171					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.512C>T	CCDS10601.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.864	0.528716	0.13127	.	.	ENSG00000140740	ENST00000268379	T	0.17370	2.28	4.88	4.88	0.63580	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.448650	0.25674	N	0.029058	T	0.08891	0.0220	N	0.10782	0.045	0.29738	N	0.837354	B	0.02656	0.0	B	0.06405	0.002	T	0.05084	-1.0907	10	0.45353	T	0.12	-4.9955	7.9365	0.29933	0.0:0.8236:0.0:0.1764	.	171	P22695	QCR2_HUMAN	I	171	ENSP00000268379:T171I	ENSP00000268379:T171I	T	+	2	0	UQCRC2	21881705	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.612000	0.54142	2.411000	0.81874	0.563000	0.77884	ACT		0.373	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		11	43	0	0	0	1	0	11	43				
CHST2	9435	broad.mit.edu	37	3	142840198	142840198	+	Silent	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:142840198C>T	ENST00000309575.3	+	2	1924	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	180					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CGTCGTTCTTCGGCGAGCTAT	0.622																																						uc003evm.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(538-540)ttC>ttT		Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.							38.0	47.0	44.0					3																	142840198		2203	4300	6503	SO:0001819	synonymous_variant	9435				N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840198C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.540C>T	3.37:g.142840198C>T						CHST2_uc021xex.1_Silent_p.F180F	p.F180F	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			1	1479	+			180					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.540C>T	CCDS3129.1																																																																																				0.622	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		5	56	0	0	0	1	0	5	56				
FNIP2	57600	broad.mit.edu	37	4	159789776	159789776	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr4:159789776C>G	ENST00000264433.6	+	13	2063	c.1988C>G	c.(1987-1989)tCa>tGa	p.S663*	FNIP2_ENST00000379346.3_Nonsense_Mutation_p.S686*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	663	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GATGGCTCTTCAAGACTTCCC	0.522																																						uc003iqe.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(1987-1989)tCa>tGa		Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.							32.0	37.0	35.0					4																	159789776		1930	4136	6066	SO:0001587	stop_gained	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159789776C>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1988C>G	4.37:g.159789776C>G	ENSP00000264433:p.Ser663*						p.S663*	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	12	2171	+	all_hematologic(180;0.24)		663			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Nonsense_Mutation	SNP	ENST00000264433.6	37	c.1988C>G	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432851	0.62844	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	.	.	.	5.54	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.8409	0.05528	0.164:0.5308:0.1128:0.1924	.	.	.	.	X	663;686	.	.	S	+	2	0	FNIP2	160009226	0.000000	0.05858	0.007000	0.13788	0.029000	0.11900	0.068000	0.14531	0.579000	0.29504	0.655000	0.94253	TCA		0.522	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		4	19	0	0	0	1	0	4	19				
PAK7	57144	broad.mit.edu	37	20	9624844	9624844	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:9624844C>T	ENST00000378429.3	-	4	679	c.133G>A	c.(133-135)Gat>Aat	p.D45N	PAK7_ENST00000353224.5_Missense_Mutation_p.D45N|PAK7_ENST00000378423.1_Missense_Mutation_p.D45N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	45	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTGGCCGTATCTGCTAACAGG	0.547																																						uc002wnl.2																			0		p.A44A(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(133-135)Gat>Aat		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.							130.0	118.0	122.0					20																	9624844		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9624844C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.133G>A	20.37:g.9624844C>T	ENSP00000367686:p.Asp45Asn					PAK7_uc002wnk.2_Missense_Mutation_p.D45N|PAK7_uc002wnj.2_Missense_Mutation_p.D45N|PAK7_uc010gby.1_Missense_Mutation_p.D45N	p.D45N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		3	678	-			45			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.133G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469034	0.84533	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	D;D;D	0.85955	-2.05;-2.05;-2.05	5.96	5.96	0.96718	PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	N	0.12961	0.28	0.58432	D	0.999995	P;D	0.89917	0.884;1.0	B;D	0.91635	0.394;0.999	D	0.85120	0.0968	9	.	.	.	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	45;45	B0AZM9;Q9P286	.;PAK7_HUMAN	N	45	ENSP00000367686:D45N;ENSP00000322957:D45N;ENSP00000367679:D45N	.	D	-	1	0	PAK7	9572844	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	6.070000	0.71220	2.830000	0.97506	0.585000	0.79938	GAT		0.547	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			5	42	0	0	0	1	0	5	42				
FAM117B	150864	broad.mit.edu	37	2	203620264	203620264	+	Missense_Mutation	SNP	C	C	T	rs564095694		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:203620264C>T	ENST00000392238.2	+	5	964	c.964C>T	c.(964-966)Cct>Tct	p.P322S	FAM117B_ENST00000303116.6_Missense_Mutation_p.P78S			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	322										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCTTAAGGCTCCTGTTCCAAA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		17832	0.001		0.0	False		,,,				2504	0.0					uc010zhx.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(964-966)Cct>Tct		Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.							171.0	162.0	165.0					2																	203620264		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203620264C>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.964C>T	2.37:g.203620264C>T	ENSP00000376071:p.Pro322Ser						p.P322S	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN			4	974	+			322					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.964C>T	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412136	0.25465	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.13	5.13	0.70059	.	0.048849	0.85682	D	0.000000	T	0.34483	0.0899	N	0.12502	0.225	0.44214	D	0.997045	B	0.19583	0.037	B	0.22601	0.04	T	0.21552	-1.0242	9	0.02654	T	1	-5.144	12.3386	0.55081	0.0:0.9223:0.0:0.0777	.	322	Q6P1L5	F117B_HUMAN	S	78;322	.	ENSP00000306299:P78S	P	+	1	0	FAM117B	203328509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.729000	0.47327	2.554000	0.86153	0.655000	0.94253	CCT		0.398	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		9	132	0	0	0	1	0	9	132				
ITIH6	347365	broad.mit.edu	37	X	54784371	54784371	+	Silent	SNP	A	A	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chrX:54784371A>G	ENST00000218436.6	-	8	2165	c.2136T>C	c.(2134-2136)gaT>gaC	p.D712D		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	712					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGGTGCCAGAATCCTGTTGTG	0.512																																						uc004dtj.2																			0											c.(2134-2136)gaT>gaC		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							156.0	138.0	144.0					X																	54784371		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784371A>G	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2136T>C	X.37:g.54784371A>G							p.D712D	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			7	2166	-			712					A6NN03	Silent	SNP	ENST00000218436.6	37	c.2136T>C	CCDS14361.1																																																																																				0.512	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	42	0	0	0	1	0	9	42				
IL12A	3592	broad.mit.edu	37	3	159713292	159713292	+	Silent	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:159713292C>T	ENST00000305579.2	+	7	1015	c.708C>T	c.(706-708)ttC>ttT	p.F236F	IL12A_ENST00000466512.1_Silent_p.F222F|IL12A-AS1_ENST00000462431.1_RNA|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Silent_p.F198F	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	202					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCATGCTTTCAGAATTCGGG	0.388																																						uc003fcx.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.(706-708)ttC>ttT		Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.							119.0	120.0	119.0					3																	159713292		2203	4300	6503	SO:0001819	synonymous_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159713292C>T	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.708C>T	3.37:g.159713292C>T						AK097161_uc003fcw.1_Intron	p.F236F	NM_000882	NP_000873	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		6	929	+			202					Q96QZ1	Silent	SNP	ENST00000305579.2	37	c.708C>T	CCDS3187.1																																																																																				0.388	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		8	97	0	0	0	1	0	8	97				
STX1B	112755	broad.mit.edu	37	16	31012260	31012260	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:31012260G>C	ENST00000215095.5	-	4	500	c.269C>G	c.(268-270)tCc>tGc	p.S90C	STX1B_ENST00000565419.1_Missense_Mutation_p.S90C	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	90					intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTTCAATTTGGACCGAACCTT	0.562																																						uc010cad.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						c.(268-270)tCc>tGc		Homo sapiens syntaxin 1B (STX1B), mRNA.							167.0	136.0	147.0					16																	31012260		2197	4300	6497	SO:0001583	missense	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity	g.chr16:31012260G>C	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.269C>G	16.37:g.31012260G>C	ENSP00000215095:p.Ser90Cys					STX1B_uc010vfd.2_Missense_Mutation_p.S90C	p.S90C	NM_052874	NP_443106	P61266	STX1B_HUMAN			3	381	-			90					Q15531|Q2VPS2	Missense_Mutation	SNP	ENST00000215095.5	37	c.269C>G	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756596	0.89843	.	.	ENSG00000099365	ENST00000215095	T	0.54479	0.57	4.61	4.61	0.57282	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.70275	2.135	0.80722	D	1	D;P	0.59357	0.985;0.918	P;P	0.56648	0.803;0.803	T	0.69476	-0.5135	10	0.49607	T	0.09	.	16.3478	0.83151	0.0:0.0:1.0:0.0	.	90;90	Q2VPS2;P61266	.;STX1B_HUMAN	C	90	ENSP00000215095:S90C	ENSP00000215095:S90C	S	-	2	0	STX1B	30919761	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.468000	0.53086	2.384000	0.81235	0.561000	0.74099	TCC		0.562	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			4	60	0	0	0	1	0	4	60				
COL15A1	1306	broad.mit.edu	37	9	101749591	101749591	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr9:101749591C>T	ENST00000375001.3	+	4	1087	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	222	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTCCAGCAGCTCACCGTGCA	0.597																																						uc004azb.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(664-666)Ctc>Ttc		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							173.0	161.0	165.0					9																	101749591		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101749591C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.664C>T	9.37:g.101749591C>T	ENSP00000364140:p.Leu222Phe						p.L222F	NM_001855	NP_001846	P39059	COFA1_HUMAN			3	870	+		Acute lymphoblastic leukemia(62;0.0562)	222			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.664C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928872	0.52759	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.15952	2.38	5.11	3.96	0.45880	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.39937	0.1097	M	0.85859	2.78	0.41986	D	0.99082	D	0.89917	1.0	D	0.97110	1.0	T	0.25467	-1.0131	10	0.49607	T	0.09	-16.1305	6.4525	0.21912	0.0:0.8391:0.0:0.1609	.	222	P39059	COFA1_HUMAN	F	222;192	ENSP00000364140:L222F	ENSP00000364140:L222F	L	+	1	0	COL15A1	100789412	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.245000	0.51407	2.524000	0.85096	0.655000	0.94253	CTC		0.597	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		75	138	0	0	0	1	0	75	138				
ABCA12	26154	broad.mit.edu	37	2	215819926	215819926	+	Splice_Site	SNP	C	C	T	rs200758693		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:215819926C>T	ENST00000272895.7	-	43	6612	c.6393G>A	c.(6391-6393)ccG>ccA	p.P2131P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site_p.P1813P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2131					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGACCTTACCGGATCATTAG	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		19484	0.0		0.001	False		,,,				2504	0.0				Ovarian(66;664 1488 5121 34295)	uc002vew.3																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.e43+1		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	61.0	58.0	59.0		5439,6393	3.2	1.0	2		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ABCA12	NM_015657.3,NM_173076.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1813/2278,2131/2596	215819926	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215819926C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6393+1G>A	2.37:g.215819926C>T						ABCA12_uc002vev.3_Splice_Site_p.P1813_splice|ABCA12_uc010zjn.2_Splice_Site_p.P1058_splice	p.P2131_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	43	6613	-		Renal(323;0.127)	2131					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	37	c.6393_splice	CCDS33372.1																																																																																				0.338	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Silent	13	28	0	0	0	1	0	13	28				
ABHD6	57406	broad.mit.edu	37	3	58260481	58260481	+	Missense_Mutation	SNP	C	C	G	rs367601823		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:58260481C>G	ENST00000478253.1	+	7	1121	c.620C>G	c.(619-621)cCa>cGa	p.P207R	ABHD6_ENST00000295962.4_Missense_Mutation_p.P207R			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	207					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CCGTCTACCCCAGAAGAGATG	0.542																																						uc003djs.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(619-621)cCa>cGa		Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.							139.0	135.0	137.0					3																	58260481		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58260481C>G	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.620C>G	3.37:g.58260481C>G	ENSP00000420315:p.Pro207Arg					ABHD6_uc003djt.4_Missense_Mutation_p.P207R	p.P207R	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	5	1030	+			207					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.620C>G	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060419	0.76074	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756	T;T;D	0.82526	-0.25;-0.25;-1.62	5.88	4.99	0.66335	.	0.262331	0.44097	D	0.000497	T	0.81288	0.4791	L	0.34521	1.04	0.37007	D	0.895558	P;P	0.51147	0.942;0.928	P;P	0.52159	0.691;0.543	T	0.79981	-0.1574	10	0.15499	T	0.54	-21.9342	15.952	0.79846	0.1361:0.8639:0.0:0.0	.	207;207	Q9BV23;F5H7L1	ABHD6_HUMAN;.	R	207	ENSP00000420315:P207R;ENSP00000295962:P207R;ENSP00000420408:P207R	ENSP00000295962:P207R	P	+	2	0	ABHD6	58235521	0.906000	0.30813	0.833000	0.33012	0.988000	0.76386	4.505000	0.60421	1.443000	0.47586	0.655000	0.94253	CCA		0.542	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		10	104	0	0	0	1	0	10	104				
NPC1L1	29881	broad.mit.edu	37	7	44575963	44575963	+	Silent	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:44575963C>T	ENST00000289547.4	-	4	1801	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G	NPC1L1_ENST00000546276.1_Silent_p.G582G|NPC1L1_ENST00000423141.1_Silent_p.G582G|NPC1L1_ENST00000381160.3_Silent_p.G582G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	582					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACGGGGGTCCCCGGCAGGGT	0.572																																						uc003tlb.3																			0		p.A581T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1744-1746)ggG>ggA		Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	Ezetimibe(DB00973)						67.0	72.0	70.0					7																	44575963		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575963C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1746G>A	7.37:g.44575963C>T						NPC1L1_uc011kbw.2_Silent_p.G582G|NPC1L1_uc003tlc.3_Silent_p.G582G|NPC1L1_uc003tld.3_Silent_p.G582G	p.G582G	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			3	1802	-			582					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1746G>A	CCDS5491.1																																																																																				0.572	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		5	59	0	0	0	1	0	5	59				
FRY	10129	broad.mit.edu	37	13	32747677	32747677	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr13:32747677G>A	ENST00000380250.3	+	19	2821	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	775						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGCCCTGGGGCAGCCTGAGG	0.383																																						uc001utx.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2323-2325)ggG>ggA		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							130.0	125.0	126.0					13																	32747677		1874	4103	5977	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32747677G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2325G>A	13.37:g.32747677G>A						FRY_uc010tdw.2_Non-coding_Transcript	p.G775G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	18	2821	+		Lung SC(185;0.0271)	775					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.2325G>A	CCDS41875.1																																																																																				0.383	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		7	80	0	0	0	1	0	7	80				
TMC2	117532	broad.mit.edu	37	20	2552906	2552906	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:2552906G>A	ENST00000358864.1	+	5	651	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	212	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACAAGATGCTGATGGCCAAGG	0.517																																						uc002wgf.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(634-636)ctG>ctA		Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.							100.0	92.0	94.0					20																	2552906		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2552906G>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.636G>A	20.37:g.2552906G>A						TMC2_uc002wgg.1_Silent_p.L196L|TMC2_uc010zpw.1_Silent_p.L44L|TMC2_uc010zpx.1_Silent_p.L43L	p.L212L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			4	651	+			212			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.636G>A	CCDS13029.2																																																																																				0.517	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			5	46	0	0	0	1	0	5	46				
PRDM16	63976	broad.mit.edu	37	1	3328631	3328642	+	In_Frame_Del	DEL	GACCTGGACAGC	GACCTGGACAGC	-			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr1:3328631_3328642delGACCTGGACAGC	ENST00000270722.5	+	9	1919_1930	c.1870_1881delGACCTGGACAGC	c.(1870-1881)gacctggacagcdel	p.DLDS624del	PRDM16_ENST00000511072.1_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000378391.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000442529.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000378398.3_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000514189.1_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000441472.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	624					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.D624Y(1)|p.L625M(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAGCGACGTGGACA	0.679			T	EVI1	"""MDS, AML"""																																	uc001akf.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		2	Substitution - Missense(2)	p.D624Y(2)|p.L625M(2)|p.S623S(1)	large_intestine(1)|lung(1)	breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1870-1881)gacctggacagcdel		Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328631_3328642delGACCTGGACAGC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1870_1881delGACCTGGACAGC	1.37:g.3328631_3328642delGACCTGGACAGC	ENSP00000270722:p.Asp624_Ser627del					PRDM16_uc001ake.3_In_Frame_Del_p.DLDS624del|PRDM16_uc009vlh.3_In_Frame_Del_p.DLDS325del|PRDM16_uc001akc.3_In_Frame_Del_p.DLDS624del	p.DLDS624del	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	8	1952_1963	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	624					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	In_Frame_Del	DEL	ENST00000270722.5	37	c.1870_1881delGACCTGGACAGC	CCDS41236.2																																																																																				0.679	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		32	72						32	72	---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150036179	150036179	+	IGR	DEL	C	C	-			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:150036179delC	ENST00000394243.1	+	0	7063				SYNPO_ENST00000307662.4_Frame_Shift_Del_p.P749fs	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin						positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCGCGGCCCCCCAGCCG	0.756																																						uc003lsp.3																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2242-2244)cccfs		Homo sapiens synaptopodin (SYNPO), transcript variant 1, mRNA.							1.0	2.0	2.0					5																	150036179		1272	2886	4158	SO:0001628	intergenic_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150036179delC	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078		5.37:g.150036179delC							p.P748fs	NM_007286	NP_009217	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2784	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	807					A5PKZ8|D3DQG8|O15271|Q9UPX1	Frame_Shift_Del	DEL	ENST00000394243.1	37	c.2242delC	CCDS54937.1																																																																																				0.756	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		2	4						2	4	---	---	---	---
