#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
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:100912815C>T	ENST00000325455.5	-	7	3960	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_ENST00000534013.1_Missense_Mutation_p.R242Q|PGR_ENST00000263463.5_Missense_Mutation_p.R734Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	836	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R836Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGTTTGACTTCGTAGCCCTTC	0.383																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			1	Substitution - Missense(1)	p.R836Q(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2506-2508)cGa>cAa		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						84.0	82.0	83.0					11																	100912815		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100912815C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2507G>A	11.37:g.100912815C>T	ENSP00000325120:p.Arg836Gln					PGR_ENST00000263463.5_Missense_Mutation_p.R734Q|PGR_ENST00000534013.1_Missense_Mutation_p.R242Q	p.R836Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	7	3960	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	836			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2507G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709829	0.89018	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.96716	1.38;1.38;-4.1	5.49	5.49	0.81192	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.057039	0.64402	D	0.000001	D	0.95680	0.8595	L	0.39085	1.19	0.33252	D	0.558599	D;D;D	0.69078	0.997;0.994;0.959	P;P;B	0.56960	0.81;0.751;0.328	D	0.97064	0.9773	10	0.56958	D	0.05	.	12.6746	0.56887	0.0:0.9246:0.0:0.0753	.	734;836;217	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	Q	836;242;734	ENSP00000325120:R836Q;ENSP00000436561:R242Q;ENSP00000263463:R734Q	ENSP00000263463:R734Q	R	-	2	0	PGR	100418025	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.509000	0.67012	2.589000	0.87451	0.585000	0.79938	CGA		0.383	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			3	50	0	0	0	1	0	3	50				
RBMY1E	378950	broad.mit.edu	37	Y	24050330	24050330	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrY:24050330C>T	ENST00000382659.2	-	12	1355	c.1204G>A	c.(1204-1206)Ggt>Agt	p.G402S	RBMY1E_ENST00000382673.2_Intron|RBMY1E_ENST00000382658.4_Missense_Mutation_p.G365S	NM_001006118.2	NP_001006118.2	A6NEQ0	RBY1E_HUMAN	RNA binding motif protein, Y-linked, family 1, member E	402					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			lung(1)	1						GGTGGTGCACCATGAGCGGTC	0.428																																						ENST00000382659.2																			0				lung(1)	1						c.(1204-1206)Ggt>Agt		RNA binding motif protein, Y-linked, family 1, member E																																				SO:0001583	missense	378950							g.chrY:24050330C>T		CCDS35481.1	Yq11.223	2013-02-12			ENSG00000242389	ENSG00000242389		"""RNA binding motif (RRM) containing"""	23916	protein-coding gene	gene with protein product						12815422	Standard	NM_001006118		Approved			A6NEQ0	OTTHUMG00000043602	ENST00000382659.2:c.1204G>A	Y.37:g.24050330C>T	ENSP00000372105:p.Gly402Ser					RBMY1E_ENST00000382673.2_Intron|RBMY1E_ENST00000382658.4_Missense_Mutation_p.G365S	p.G402S	NM_001006118.2	NP_001006118.2					12	1355	-								A6NCW6|A6NEG9|A6NKQ5	Missense_Mutation	SNP	ENST00000382659.2	37	c.1204G>A	CCDS35481.1																																																																																				0.428	RBMY1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000101947.1	NM_001006118		12	85	0	0	0	1	0	12	85				
OR10G8	219869	broad.mit.edu	37	11	123901018	123901018	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:123901018C>T	ENST00000431524.1	+	1	722	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATCCGCACCTCAGAGGGGAAG	0.537																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(688-690)tCa>tTa		olfactory receptor, family 10, subfamily G, member 8							165.0	142.0	150.0					11																	123901018		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901018C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.689C>T	11.37:g.123901018C>T	ENSP00000389072:p.Ser230Leu						p.S230L	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	722	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	230					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.689C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255898	0.22965	.	.	ENSG00000234560	ENST00000431524	T	0.00084	8.75	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.176627	0.26397	N	0.024615	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	P	0.43024	0.798	P	0.48921	0.595	T	0.49031	-0.8981	10	0.48119	T	0.1	.	9.1789	0.37129	0.3515:0.6484:0.0:0.0	.	230	Q8NGN5	O10G8_HUMAN	L	230	ENSP00000389072:S230L	ENSP00000389072:S230L	S	+	2	0	OR10G8	123406228	0.002000	0.14202	0.995000	0.50966	0.153000	0.21895	1.036000	0.30228	1.611000	0.50210	0.557000	0.71058	TCA		0.537	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		12	83	0	0	0	1	0	12	83				
PKP4	8502	broad.mit.edu	37	2	159459581	159459581	+	Splice_Site	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:159459581G>A	ENST00000389759.3	+	4	357		c.e4-1		PKP4_ENST00000389757.3_Splice_Site	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4						cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTTTCTTTAGCTCAACTGAG	0.259										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.e4-1		plakophilin 4							39.0	47.0	44.0					2																	159459581		2180	4268	6448	SO:0001630	splice_region_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159459581G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.246-1G>A	2.37:g.159459581G>A		HNSCC(62;0.18)				PKP4_ENST00000389759.3_Splice_Site		NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			4	370	+								Q86W91	Splice_Site	SNP	ENST00000389759.3	37		CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949876	0.53186	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2074	0.73190	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKP4	159167827	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	5.266000	0.65525	2.745000	0.94114	0.484000	0.47621	.		0.259	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		Intron	5	70	0	0	0	1	0	5	70				
KIR3DL1	3811	broad.mit.edu	37	19	55281318	55281318	+	Intron	SNP	G	G	A	rs375195215		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:55281318G>A	ENST00000538269.1	+	1	61				KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V6I|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.V6I|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCTCTTGGTCGTCAGCATGGC	0.607											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(16-18)Gtc>Atc		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							118.0	102.0	107.0					19																	55281318		2157	4193	6350	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55281318G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+45283G>A	19.37:g.55281318G>A			OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1006	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V6I	p.V6I	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	1	56	+			6					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.16G>A		.	.	.	.	.	.	.	.	.	.	G	3.220	-0.159807	0.06502	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00475	7.18;7.17	0.514	-1.03	0.10102	.	.	.	.	.	T	0.00271	0.0008	N	0.25201	0.72	0.19300	N	0.999974	B;B	0.15473	0.002;0.013	B;B	0.13407	0.002;0.009	T	0.39502	-0.9611	8	0.62326	D	0.03	.	.	.	.	.	6;6	Q6IST4;Q6H2H3	.;.	I	6	ENSP00000336769:V6I;ENSP00000291633:V6I	ENSP00000291633:V6I	V	+	1	0	KIR2DL1	59973130	0.000000	0.05858	0.020000	0.16555	0.009000	0.06853	-0.324000	0.07986	-0.402000	0.07633	-0.745000	0.03516	GTC		0.607	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		13	55	0	0	0	1	0	13	55				
PKD1L2	114780	broad.mit.edu	37	16	81183425	81183425	+	RNA	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr16:81183425G>A	ENST00000525539.1	-	0	4622				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCGAGCGCAGCGGCTGAAGA	0.607																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							41.0	44.0	43.0					16																	81183425		1963	4138	6101			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183425G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183425G>A						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4622	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.607	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			8	30	0	0	0	1	0	8	30				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	118	0	0	0	1	0	5	118				
DHX35	60625	broad.mit.edu	37	20	37601286	37601286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:37601286A>G	ENST00000252011.3	+	3	292	c.259A>G	c.(259-261)Att>Gtt	p.I87V	DHX35_ENST00000373323.4_Intron|DHX35_ENST00000373325.2_Missense_Mutation_p.I87V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	87	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGCACACAGATTCCTCAGGT	0.333																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(259-261)Att>Gtt		DEAH (Asp-Glu-Ala-His) box polypeptide 35							120.0	120.0	120.0					20																	37601286		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37601286A>G	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.259A>G	20.37:g.37601286A>G	ENSP00000252011:p.Ile87Val					DHX35_ENST00000373325.2_Missense_Mutation_p.I87V|DHX35_ENST00000373323.4_Intron	p.I87V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			3	292	+		Myeloproliferative disorder(115;0.00878)	87			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.259A>G	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	8.446	0.852013	0.17034	.	.	ENSG00000101452	ENST00000373325;ENST00000252011	T;T	0.02916	4.11;4.11	4.82	2.4	0.29515	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.111999	0.64402	N	0.000020	T	0.01835	0.0058	N	0.12663	0.25	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55879	-0.8071	10	0.39692	T	0.17	.	7.1184	0.25429	0.7716:0.1473:0.0812:0.0	.	87	Q9H5Z1	DHX35_HUMAN	V	87	ENSP00000362422:I87V;ENSP00000252011:I87V	ENSP00000252011:I87V	I	+	1	0	DHX35	37034700	1.000000	0.71417	0.995000	0.50966	0.844000	0.47949	6.338000	0.72963	0.228000	0.21019	0.358000	0.22013	ATT		0.333	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		6	42	0	0	0	1	0	6	42				
MCOLN1	57192	broad.mit.edu	37	19	7593548	7593548	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:7593548C>T	ENST00000264079.6	+	8	1068	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	315					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCCTTCCTCCTCTGCGCCCG	0.632																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(943-945)Ctc>Ttc		mucolipin 1							165.0	100.0	122.0					19																	7593548		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7593548C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.943C>T	19.37:g.7593548C>T	ENSP00000264079:p.Leu315Phe						p.L315F	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			8	1068	+			315					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.943C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234154	0.58886	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.81247	-1.47	5.32	4.29	0.51040	.	0.070791	0.64402	D	0.000020	D	0.89403	0.6705	M	0.87682	2.9	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.70016	0.967;0.947	D	0.89625	0.3851	10	0.49607	T	0.09	.	11.5425	0.50675	0.0:0.9131:0.0:0.0869	.	280;315	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	F	315;280	ENSP00000264079:L315F	ENSP00000264079:L315F	L	+	1	0	MCOLN1	7499548	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	2.476000	0.45171	1.249000	0.43950	0.563000	0.77884	CTC		0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		4	41	0	0	0	1	0	4	41				
ZNF699	374879	broad.mit.edu	37	19	9413161	9413161	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9413161T>A	ENST00000591998.1	-	3	296	c.68A>T	c.(67-69)gAt>gTt	p.D23V	ZNF699_ENST00000308650.3_Missense_Mutation_p.D23V|ZNF699_ENST00000588336.1_5'UTR			Q32M78	ZN699_HUMAN	zinc finger protein 699	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACAGCCACATCCTCAAAGAC	0.463																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(67-69)gAt>gTt		zinc finger protein 699							97.0	97.0	97.0					19																	9413161		2203	4300	6503	SO:0001583	missense	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9413161T>A	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.68A>T	19.37:g.9413161T>A	ENSP00000467723:p.Asp23Val					ZNF699_ENST00000308650.3_Missense_Mutation_p.D23V|ZNF699_ENST00000588336.1_5'UTR	p.D23V			Q32M78	ZN699_HUMAN			3	296	-			23			KRAB.		Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	c.68A>T	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520267	0.44866	.	.	ENSG00000196110	ENST00000308650	T	0.12039	2.72	3.62	3.62	0.41486	Krueppel-associated box (4);	.	.	.	.	T	0.51415	0.1673	H	0.98866	4.355	0.44652	D	0.997631	D	0.89917	1.0	D	0.91635	0.999	T	0.65245	-0.6215	9	0.87932	D	0	.	8.9049	0.35517	0.0:0.0:0.0:1.0	.	23	Q32M78	ZN699_HUMAN	V	23	ENSP00000311596:D23V	ENSP00000311596:D23V	D	-	2	0	ZNF699	9274161	0.878000	0.30173	1.000000	0.80357	0.529000	0.34654	1.683000	0.37638	1.882000	0.54519	0.448000	0.29417	GAT		0.463	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		6	66	0	0	0	1	0	6	66				
SLC15A1	6564	broad.mit.edu	37	13	99337171	99337171	+	Splice_Site	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:99337171T>C	ENST00000376503.5	-	23	1991		c.e23-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTCGGCCCACTTTGAAGAAAT	0.428																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e23-2		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						38.0	35.0	36.0					13																	99337171		2203	4300	6503	SO:0001630	splice_region_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99337171T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1936-2A>G	13.37:g.99337171T>C								NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			23	1991	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)							Q5VW82	Splice_Site	SNP	ENST00000376503.5	37		CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806592	0.31961	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.129	0.65240	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98135172	1.000000	0.71417	0.903000	0.35520	0.045000	0.14185	7.214000	0.77958	1.987000	0.57996	0.533000	0.62120	.		0.428	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	Intron	8	15	0	0	0	1	0	8	15				
FAM222B	55731	broad.mit.edu	37	17	27085549	27085549	+	Silent	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:27085549G>A	ENST00000341217.5	-	3	1643	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	FAM222B_ENST00000581407.1_Silent_p.H476H|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.H476H	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	476																	GCTGCCCACCGTGGAACGGCA	0.647																																						ENST00000341217.5																			0											c.(1426-1428)caC>caT		family with sequence similarity 222, member B							43.0	43.0	43.0					17																	27085549		1974	4140	6114	SO:0001819	synonymous_variant	55731							g.chr17:27085549G>A	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.1428C>T	17.37:g.27085549G>A						FAM222B_ENST00000581407.1_Silent_p.H476H|FAM222B_ENST00000452648.3_Silent_p.H476H|FAM222B_ENST00000582266.1_3'UTR	p.H476H	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN			3	1643	-			476					Q9H6F3|Q9NVJ4|Q9NXN6	Silent	SNP	ENST00000341217.5	37	c.1428C>T	CCDS45637.1																																																																																				0.647	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		9	36	0	0	0	1	0	9	36				
JMJD4	65094	broad.mit.edu	37	1	227920211	227920211	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:227920211A>G	ENST00000366758.3	-	6	1273	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	SNAP47_ENST00000315781.5_5'Flank|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.L409P|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366759.4_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	425										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CAAGGAGGCCAGCACCTCTGT	0.612																																						ENST00000366758.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(1273-1275)cTg>cCg		jumonji domain containing 4							99.0	80.0	87.0					1																	227920211		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227920211A>G	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1274T>C	1.37:g.227920211A>G	ENSP00000355720:p.Leu425Pro					SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.L409P|JMJD4_ENST00000485807.1_5'UTR	p.L425P	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			6	1273	-		Prostate(94;0.0885)	425					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.1274T>C	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.03|16.03	3.006101|3.006101	0.54361|0.54361	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.32753|.	1.44|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.141579|.	0.48286|.	D|.	0.000183|.	T|T	0.72358|0.72358	0.3450|0.3450	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.979|.	T|T	0.73582|0.73582	-0.3937|-0.3937	10|5	0.87932|.	D|.	0|.	-22.3965|-22.3965	12.2654|12.2654	0.54674|0.54674	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	409;425|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	P|R	425|402	ENSP00000355720:L425P|.	ENSP00000355720:L425P|.	L|W	-|-	2|1	0|0	JMJD4|JMJD4	225986834|225986834	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.206000|0.206000	0.24218|0.24218	7.329000|7.329000	0.79170|0.79170	2.002000|2.002000	0.58637|0.58637	0.379000|0.379000	0.24179|0.24179	CTG|TGG		0.612	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		10	48	0	0	0	1	0	10	48				
MYH1	4619	broad.mit.edu	37	17	10404747	10404747	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:10404747G>A	ENST00000226207.5	-	27	3512	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGATCAGAGCGCTGCTTCTCT	0.587																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3418-3420)Cgc>Tgc		myosin, heavy chain 1, skeletal muscle, adult							50.0	56.0	54.0					17																	10404747		2203	4298	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404747G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3418C>T	17.37:g.10404747G>A	ENSP00000226207:p.Arg1140Cys					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1140C	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3512	-			1140					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3418C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195646	0.78902	.	.	ENSG00000109061	ENST00000226207	D	0.82893	-1.66	5.3	4.26	0.50523	Myosin tail (1);	0.000000	0.41294	U	0.000907	D	0.94072	0.8100	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95640	0.8697	10	0.87932	D	0	.	15.0435	0.71811	0.0:0.0:0.8574:0.1426	.	1140	P12882	MYH1_HUMAN	C	1140	ENSP00000226207:R1140C	ENSP00000226207:R1140C	R	-	1	0	MYH1	10345472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.714000	0.68422	2.641000	0.89580	0.650000	0.86243	CGC		0.587	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		15	72	0	0	0	1	0	15	72				
ULBP3	79465	broad.mit.edu	37	6	150387184	150387184	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:150387184C>T	ENST00000367339.2	-	2	231	c.203G>A	c.(202-204)gGc>gAc	p.G68D	ULBP3_ENST00000438272.2_Missense_Mutation_p.G68D			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	68	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTTGTCACTGCCACAGTCATA	0.498																																						ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(202-204)gGc>gAc		UL16 binding protein 3							163.0	153.0	156.0					6																	150387184		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150387184C>T	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.203G>A	6.37:g.150387184C>T	ENSP00000356308:p.Gly68Asp					ULBP3_ENST00000438272.2_Missense_Mutation_p.G68D	p.G68D			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	2	231	-		Ovarian(120;0.12)	68			MHC class I alpha-1 like.		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.203G>A	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084879	0.20309	.	.	ENSG00000131019	ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00640	6.03;6.03	3.18	-0.352	0.12598	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00210	0.0006	N	0.20685	0.6	0.09310	N	1	P	0.38551	0.636	B	0.43225	0.412	T	0.17653	-1.0362	9	0.18276	T	0.48	-0.9868	2.9719	0.05925	0.2061:0.5112:0.0:0.2827	.	68	Q9BZM4	N2DL3_HUMAN	D	68	ENSP00000356308:G68D;ENSP00000403562:G68D	ENSP00000253335:G68D	G	-	2	0	ULBP3	150428877	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-3.520000	0.00443	-0.076000	0.12775	0.478000	0.44815	GGC		0.498	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			24	93	0	0	0	1	0	24	93				
ZFP64	55734	broad.mit.edu	37	20	50701500	50701500	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:50701500C>T	ENST00000361387.2	-	9	1594	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.V293M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCTGTGCACGCGCAGGGCG	0.657																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1534-1536)Gtg>Atg		ZFP64 zinc finger protein							57.0	56.0	56.0					20																	50701500		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701500C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1534G>A	20.37:g.50701500C>T	ENSP00000355179:p.Val512Met					ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.V293M	p.V512M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1594	-			360					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000361387.2	37	c.1534G>A	CCDS13439.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229689	0.58777	.	.	ENSG00000020256	ENST00000371523;ENST00000361387	T;T	0.18338	2.22;2.22	4.5	4.5	0.54988	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34106	0.0886	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.03761	-1.1006	9	0.46703	T	0.11	.	17.7644	0.88473	0.0:1.0:0.0:0.0	.	512;293	Q9NTW7;Q9NTW7-2	ZF64B_HUMAN;.	M	293;512	ENSP00000360578:V293M;ENSP00000355179:V512M	ENSP00000355179:V512M	V	-	1	0	ZFP64	50134907	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	4.623000	0.61247	2.487000	0.83934	0.655000	0.94253	GTG		0.657	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		10	52	0	0	0	1	0	10	52				
SLC18A2	6571	broad.mit.edu	37	10	119017386	119017386	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:119017386C>T	ENST00000298472.5	+	10	1117	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	325					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACCATGTGTTCCCGAAAGTGG	0.572																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(973-975)tCc>tTc		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						75.0	66.0	69.0					10																	119017386		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119017386C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.974C>T	10.37:g.119017386C>T	ENSP00000298472:p.Ser325Phe					SLC18A2_ENST00000497497.1_3'UTR	p.S325F	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	10	1117	+		Colorectal(252;0.19)	325					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.974C>T	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883672	0.72410	.	.	ENSG00000165646	ENST00000298472	T	0.52754	0.65	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372528	0.31472	N	0.007600	T	0.55321	0.1913	M	0.75777	2.31	0.51482	D	0.999923	B	0.13145	0.007	B	0.25506	0.061	T	0.50320	-0.8842	10	0.41790	T	0.15	-15.2694	20.4384	0.99098	0.0:1.0:0.0:0.0	.	325	Q05940	VMAT2_HUMAN	F	325	ENSP00000298472:S325F	ENSP00000298472:S325F	S	+	2	0	SLC18A2	119007376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	2.831000	0.97527	0.644000	0.83932	TCC		0.572	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		10	31	0	0	0	1	0	10	31				
PAXBP1	94104	broad.mit.edu	37	21	34123275	34123275	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:34123275T>C	ENST00000331923.4	-	10	1865	c.1676A>G	c.(1675-1677)gAt>gGt	p.D559G	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D559G	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	559					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCTTCATCATCACTGGAAAG	0.368																																						ENST00000331923.4																			0											c.(1675-1677)gAt>gGt		PAX3 and PAX7 binding protein 1							143.0	141.0	142.0					21																	34123275		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34123275T>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1676A>G	21.37:g.34123275T>C	ENSP00000328992:p.Asp559Gly					PAXBP1_ENST00000290178.4_Missense_Mutation_p.D559G	p.D559G	NM_016631.3	NP_057715.2					10	1865	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1676A>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578324	0.86645	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.51574	1.08;0.7	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.77365	-0.2615	10	0.72032	D	0.01	-25.9853	15.1974	0.73104	0.0:0.0:0.0:1.0	.	559;559;68	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	G	559	ENSP00000328992:D559G;ENSP00000290178:D559G	ENSP00000290178:D559G	D	-	2	0	GCFC1	33045146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.542000	0.82095	2.082000	0.62665	0.455000	0.32223	GAT		0.368	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		4	109	0	0	0	1	0	4	109				
PLA2R1	22925	broad.mit.edu	37	2	160901539	160901539	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:160901539C>T	ENST00000283243.7	-	2	445	c.239G>A	c.(238-240)gGc>gAc	p.G80D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G80D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	80	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTTAAAGAGGCCATGGTTTGA	0.478																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(238-240)gGc>gAc		phospholipase A2 receptor 1, 180kDa							74.0	68.0	70.0					2																	160901539		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160901539C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.239G>A	2.37:g.160901539C>T	ENSP00000283243:p.Gly80Asp					PLA2R1_ENST00000392771.1_Missense_Mutation_p.G80D	p.G80D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			2	445	-			80			Ricin B-type lectin.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.239G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075655	0.20227	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.27256	1.68;1.68	6.07	-1.87	0.07737	Ricin B-related lectin (1);Ricin B lectin (2);	0.623267	0.17943	N	0.156771	T	0.15219	0.0367	N	0.14661	0.345	0.09310	N	1	B;B;B	0.30973	0.044;0.302;0.201	B;B;B	0.32289	0.053;0.143;0.107	T	0.16453	-1.0402	10	0.66056	D	0.02	.	13.8798	0.63676	0.0:0.5376:0.0:0.4624	.	80;80;80	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	D	80	ENSP00000283243:G80D;ENSP00000376524:G80D	ENSP00000283243:G80D	G	-	2	0	PLA2R1	160609785	0.002000	0.14202	0.010000	0.14722	0.557000	0.35523	-0.088000	0.11198	-0.447000	0.07138	-0.302000	0.09304	GGC		0.478	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			15	38	0	0	0	1	0	15	38				
SYCP2L	221711	broad.mit.edu	37	6	10956459	10956459	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:10956459G>T	ENST00000283141.6	+	25	2443	c.2147G>T	c.(2146-2148)cGg>cTg	p.R716L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	716						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTAAAAAACGGAAAAGAAAA	0.388																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2146-2148)cGg>cTg		synaptonemal complex protein 2-like							55.0	50.0	52.0					6																	10956459		1809	4078	5887	SO:0001583	missense	221711					nucleus		g.chr6:10956459G>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2147G>T	6.37:g.10956459G>T	ENSP00000283141:p.Arg716Leu						p.R716L	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		25	2443	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	716					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.2147G>T	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	0.229	-1.022793	0.02061	.	.	ENSG00000153157	ENST00000283141	T	0.11169	2.8	5.76	4.6	0.57074	.	0.094549	0.42420	N	0.000718	T	0.00496	0.0016	N	0.00092	-2.175	0.22827	N	0.998682	B	0.02656	0.0	B	0.01281	0.0	T	0.45556	-0.9253	10	0.02654	T	1	-0.6429	10.1683	0.42893	0.0:0.0:0.1681:0.8319	.	716	Q5T4T6	SYC2L_HUMAN	L	716	ENSP00000283141:R716L	ENSP00000283141:R716L	R	+	2	0	SYCP2L	11064445	0.657000	0.27393	0.015000	0.15790	0.002000	0.02628	2.231000	0.43009	1.005000	0.39183	-0.264000	0.10439	CGG		0.388	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		4	15	1	0	0.00909568	1	0.00924238	4	15				
MGA	23269	broad.mit.edu	37	15	42019568	42019568	+	Silent	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:42019568A>G	ENST00000570161.1	+	9	3621	c.3621A>G	c.(3619-3621)aaA>aaG	p.K1207K	MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K|MGA_ENST00000389936.4_Silent_p.K1207K|MGA_ENST00000219905.7_Silent_p.K1207K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGAATTAAATCTCCACGGT	0.413																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3619-3621)aaA>aaG		MGA, MAX dimerization protein							162.0	155.0	157.0					15																	42019568		1864	4099	5963	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42019568A>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3621A>G	15.37:g.42019568A>G						MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K|MGA_ENST00000389936.4_Silent_p.K1207K|MGA_ENST00000570161.1_Silent_p.K1207K	p.K1207K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	10	3802	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1207					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.3621A>G	CCDS55959.1																																																																																				0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		23	99	0	0	0	1	0	23	99				
LILRB5	10990	broad.mit.edu	37	19	54754820	54754820	+	Intron	SNP	T	T	G	rs429425	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:54754820T>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.L605F|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGTGAGAGGTAAGGAACGTG	0.607													.|||	4159	0.830471	0.8593	0.7824	5008	,	,		9457	0.8294		0.7843	False		,,,				2504	0.8742					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1813-1815)ttA>ttC		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5		G	,,	3675,725		1585,505,110	33.0	34.0	34.0		,,	-4.9	0.0	19	dbSNP_80	34	6648,1934		2753,1142,396	no	intron,intron,intron	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	,,	4338,1647,506	GG,GT,TT		22.5355,16.4773,20.4822	,,	,,	54754820	10323,2659	2200	4291	6491	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754820T>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-24A>C	19.37:g.54754820T>G						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	p.L605F			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1892	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		440					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1815A>C	CCDS12885.1	1710	0.782967032967033	396	0.8048780487804879	281	0.7762430939226519	464	0.8111888111888111	569	0.7506596306068601	t	8.517	0.867865	0.17250	0.835227	0.774645	ENSG00000105609	ENST00000450632	T	0.00510	6.9	2.46	-4.92	0.03075	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.09509	-1.0671	7	0.38643	T	0.18	.	1.3525	0.02176	0.4786:0.1571:0.2056:0.1587	rs429425;rs4002824;rs58241854	605	C9JMK7	.	F	605	ENSP00000414225:L605F	ENSP00000414225:L605F	L	-	3	2	LILRB5	59446632	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.731000	0.01853	-1.442000	0.01955	-1.238000	0.01547	TTA		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			3	26	0	0	0	1	0	3	26				
SHANK2	22941	broad.mit.edu	37	11	70331677	70331677	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:70331677C>A	ENST00000423696.2	-	15	3620	c.3584G>T	c.(3583-3585)aGc>aTc	p.S1195I	SHANK2_ENST00000338508.4_Missense_Mutation_p.S1575I|SHANK2_ENST00000409161.1_Missense_Mutation_p.S978I|SHANK2_ENST00000449833.2_Missense_Mutation_p.S979I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1195					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gATAACAAAGCTATCTACATC	0.572																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4723-4725)aGc>aTc		SH3 and multiple ankyrin repeat domains 2							93.0	94.0	94.0					11																	70331677		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331677C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3584G>T	11.37:g.70331677C>A	ENSP00000394536:p.Ser1195Ile					SHANK2_ENST00000409161.1_Missense_Mutation_p.S978I|SHANK2_ENST00000449833.2_Missense_Mutation_p.S979I|SHANK2_ENST00000423696.2_Missense_Mutation_p.S1195I	p.S1575I			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4723	-			1195					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4724G>T		.	.	.	.	.	.	.	.	.	.	C	15.28	2.787324	0.49997	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.42	5.42	0.78866	.	0.366135	0.37715	N	0.001980	T	0.40956	0.1138	M	0.75777	2.31	0.80722	D	1	B;P;P	0.51147	0.378;0.942;0.901	B;P;P	0.57425	0.282;0.784;0.82	T	0.24083	-1.0170	10	0.62326	D	0.03	.	12.5544	0.56244	0.0:0.9241:0.0:0.0758	.	1195;1574;979	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	I	979;978;853;1575;1195;1213;1198	ENSP00000399423:S979I;ENSP00000386491:S978I;ENSP00000402944:S853I;ENSP00000345193:S1575I;ENSP00000394536:S1195I;ENSP00000294018:S1198I	ENSP00000294018:S1198I	S	-	2	0	SHANK2	70009325	0.999000	0.42202	0.797000	0.32132	0.998000	0.95712	3.491000	0.53252	2.549000	0.85964	0.655000	0.94253	AGC		0.572	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		5	127	1	0	1	1	1	5	127				
KRT25	147183	broad.mit.edu	37	17	38905574	38905574	+	Silent	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:38905574G>T	ENST00000312150.4	-	7	1239	c.1179C>A	c.(1177-1179)gcC>gcA	p.A393A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CAGACTTACAGGCTCTGTGAA	0.378																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1177-1179)gcC>gcA		keratin 25							143.0	140.0	141.0					17																	38905574		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38905574G>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1179C>A	17.37:g.38905574G>T							p.A393A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			7	1239	-		Breast(137;0.00526)	393			Tail.			Silent	SNP	ENST00000312150.4	37	c.1179C>A	CCDS11373.1																																																																																				0.378	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		11	105	1	0	0.00010058	1	0.000107399	11	105				
CNGA2	1260	broad.mit.edu	37	X	150912517	150912517	+	Silent	SNP	G	G	A	rs185584985		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:150912517G>A	ENST00000329903.4	+	6	1575	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	514					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGCTGTCGGCTGGAAGCT	0.512													G|||	1	0.000264901	0.0	0.0014	3775	,	,		16706	0.0		0.0	False		,,,				2504	0.0					ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1540-1542)tcG>tcA		cyclic nucleotide gated channel alpha 2							171.0	141.0	151.0					X																	150912517		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912517G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1542G>A	X.37:g.150912517G>A							p.S514S	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1575	+	Acute lymphoblastic leukemia(192;6.56e-05)		514					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.1542G>A	CCDS14701.1																																																																																				0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		14	31	0	0	0	1	0	14	31				
SPDL1	54908	broad.mit.edu	37	5	169028287	169028287	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:169028287C>T	ENST00000265295.4	+	11	1607	c.1328C>T	c.(1327-1329)aCa>aTa	p.T443I		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TTCTCAGAGACAGTTGAAGTG	0.418																																						ENST00000265295.4																			0											c.(1327-1329)aCa>aTa		spindle apparatus coiled-coil protein 1							55.0	58.0	57.0					5																	169028287		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169028287C>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1328C>T	5.37:g.169028287C>T	ENSP00000265295:p.Thr443Ile						p.T443I	NM_017785.4	NP_060255.3					11	1607	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.1328C>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	C	6.762	0.509521	0.12883	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.31510	1.49	5.68	0.796	0.18648	.	0.613475	0.18037	N	0.153756	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.002	T	0.15636	-1.0430	10	0.36615	T	0.2	-3.0982	2.6233	0.04922	0.2307:0.4479:0.0916:0.2298	.	365;344;443	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	I	443;344	ENSP00000265295:T443I	ENSP00000265295:T443I	T	+	2	0	CCDC99	168960865	0.058000	0.20735	0.829000	0.32907	0.603000	0.37013	0.465000	0.22004	0.120000	0.18254	0.585000	0.79938	ACA		0.418	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		14	24	0	0	0	1	0	14	24				
CXCR2	3579	broad.mit.edu	37	2	218999635	218999635	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:218999635C>T	ENST00000318507.2	+	3	538	c.111C>T	c.(109-111)gcC>gcT	p.A37A		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TAGATGCCGCCCCATGTGAAC	0.458																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(109-111)gcC>gcT		chemokine (C-X-C motif) receptor 2							139.0	136.0	137.0					2																	218999635		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999635C>T	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.111C>T	2.37:g.218999635C>T							p.A37A	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	538	+			37					Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.111C>T	CCDS2408.1																																																																																				0.458	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		23	89	0	0	0	1	0	23	89				
POLR3D	661	broad.mit.edu	37	8	22102484	22102484	+	5'Flank	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr8:22102484T>C	ENST00000397802.4	+	0	0				MIR320A_ENST00000385302.1_RNA|POLR3D_ENST00000306433.4_5'Flank			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CACCTCATCCTTTTTCGCCCT	0.637																																						ENST00000385302.1																			0																				103.0	109.0	107.0					8																	22102484		1568	3582	5150	SO:0001631	upstream_gene_variant	0							g.chr8:22102484T>C	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778		8.37:g.22102484T>C	Exception_encountered							NR_029714.1						0	72	-								Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	RNA	SNP	ENST00000397802.4	37		CCDS34858.1																																																																																				0.637	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		4	101	0	0	0	1	0	4	101				
ZNF28	7576	broad.mit.edu	37	19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:53303413C>T	ENST00000457749.2	-	4	1804	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ZNF28_ENST00000438150.2_Missense_Mutation_p.R509H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1525-1527)cGc>cAc		zinc finger protein 28							106.0	102.0	103.0					19																	53303413		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303413C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1685G>A	19.37:g.53303413C>T	ENSP00000397693:p.Arg562His					ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R562H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H	p.R509H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2419	-			562					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1526G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.023	-1.397880	0.01175	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	1.61	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	L	0.28054	0.825	0.09310	N	1	B	0.23185	0.081	B	0.09377	0.004	T	0.44329	-0.9335	9	0.10111	T	0.7	.	1.3099	0.02095	0.1329:0.3315:0.2293:0.3063	.	562	P17035	ZNF28_HUMAN	H	509;562;509;509;509	ENSP00000412143:R509H;ENSP00000397693:R562H;ENSP00000353410:R509H;ENSP00000444965:R509H;ENSP00000375661:R509H	ENSP00000353410:R509H	R	-	2	0	ZNF28	57995225	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.084000	0.00082	-2.531000	0.00491	-0.490000	0.04691	CGC		0.413	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		4	127	0	0	0	1	0	4	127				
NF1	4763	broad.mit.edu	37	17	29665041	29665041	+	Splice_Site	SNP	A	A	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29665041A>T	ENST00000358273.4	+	45	7087		c.e45-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000444181.2_Nonsense_Mutation_p.R28*|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAATTGCAGATTTGCATT	0.318			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000444181.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(82-84)Aga>Tga		neurofibromin 1							117.0	117.0	117.0					17																	29665041		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665041A>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6705-1A>T	17.37:g.29665041A>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000417592.2_Intron|NF1_ENST00000358273.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	p.R28*			P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	2	86	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2235					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.82A>T	CCDS42292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.49|17.49	3.403301|3.403301	0.62288|0.62288	.|.	.|.	ENSG00000196712|ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735|ENST00000444181	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|.	16.065|16.065	0.80865|0.80865	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|28	.|.	.|ENSP00000396481:R28X	.|R	+|+	.|1	.|2	NF1|NF1	26689167|26689167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	8.639000|8.639000	0.91023|0.91023	2.257000|2.257000	0.74773|0.74773	0.460000|0.460000	0.39030|0.39030	.|AGA		0.318	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	30	67	0	0	0	1	0	30	67				
PTPRC	5788	broad.mit.edu	37	1	198719744	198719744	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198719744C>G	ENST00000367376.2	+	29	3361	c.3190C>G	c.(3190-3192)Cat>Gat	p.H1064D	PTPRC_ENST00000348564.6_Missense_Mutation_p.H905D|PTPRC_ENST00000594404.1_Missense_Mutation_p.H903D|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1016D|PTPRC_ENST00000442510.2_Missense_Mutation_p.H1066D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1064	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGAACTGAAACATGGAGACCA	0.413																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3190-3192)Cat>Gat		protein tyrosine phosphatase, receptor type, C							142.0	139.0	140.0					1																	198719744		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198719744C>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3190C>G	1.37:g.198719744C>G	ENSP00000356346:p.His1064Asp					PTPRC_ENST00000348564.6_Missense_Mutation_p.H905D|PTPRC_ENST00000442510.2_Missense_Mutation_p.H1066D|PTPRC_ENST00000594404.1_Missense_Mutation_p.H903D|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1016D	p.H1064D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			29	3361	+			1064			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3190C>G		.	.	.	.	.	.	.	.	.	.	C	2.065	-0.414384	0.04766	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.12361	2.69	5.79	0.663	0.17885	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	1.460060	0.04405	N	0.365035	T	0.03434	0.0099	N	0.00204	-1.855	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.29549	-1.0008	10	0.37606	T	0.19	.	6.0925	0.20003	0.3527:0.3768:0.2705:0.0	.	905;1016;1064	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	D	1066;1016;1064;903	ENSP00000193532:H1016D	ENSP00000306782:H903D	H	+	1	0	PTPRC	196986367	0.019000	0.18553	0.000000	0.03702	0.006000	0.05464	1.282000	0.33226	0.121000	0.18284	0.557000	0.71058	CAT		0.413	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	125	0	0	0	1	0	4	125				
CTC1	80169	broad.mit.edu	37	17	8136303	8136303	+	Silent	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:8136303T>C	ENST00000315684.8	-	11	1873	c.1866A>G	c.(1864-1866)caA>caG	p.Q622Q		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	622					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGTCCCGAAGTTGCAGACAAC	0.488																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1864-1866)caA>caG		CTS telomere maintenance complex component 1							151.0	156.0	154.0					17																	8136303		1984	4170	6154	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8136303T>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1866A>G	17.37:g.8136303T>C							p.Q622Q	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			11	1873	-			622					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.1866A>G	CCDS42259.1																																																																																				0.488	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		16	121	0	0	0	1	0	16	121				
UPF1	5976	broad.mit.edu	37	19	18968242	18968242	+	Silent	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:18968242G>A	ENST00000599848.1	+	15	2324	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	UPF1_ENST00000262803.5_Silent_p.R694R			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	705					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGGGCATCCGGCCCATCCGCC	0.647																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2080-2082)cgG>cgA		UPF1 regulator of nonsense transcripts homolog (yeast)							36.0	37.0	36.0					19																	18968242		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968242G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2115G>A	19.37:g.18968242G>A						UPF1_ENST00000599848.1_Silent_p.R705R	p.R694R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			15	2354	+			705					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.2082G>A																																																																																					0.647	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		13	29	0	0	0	1	0	13	29				
DNMT3A	1788	broad.mit.edu	37	2	25464457	25464457	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:25464457C>A	ENST00000264709.3	-	17	2393	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	DNMT3A_ENST00000380746.4_Missense_Mutation_p.D497Y|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D463Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D686Y|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	686	S-adenosyl-L-methionine binding. {ECO:0000305}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.D686G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGACGTCCCCGACGTAC	0.627			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - Missense(1)	p.D686G(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2056-2058)Gac>Tac		DNA (cytosine-5-)-methyltransferase 3 alpha							138.0	95.0	110.0					2																	25464457		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25464457C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2056G>T	2.37:g.25464457C>A	ENSP00000264709:p.Asp686Tyr					DNMT3A_ENST00000380746.4_Missense_Mutation_p.D497Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D686Y|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D463Y|DNMT3A_ENST00000474887.1_5'UTR	p.D686Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			17	2393	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		686					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2056G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978329	0.92982	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99032	1.0821	10	0.87932	D	0	-14.5951	17.824	0.88658	0.0:1.0:0.0:0.0	.	686;497	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Y	497;686;686;463	ENSP00000370122:D497Y;ENSP00000324375:D686Y;ENSP00000264709:D686Y;ENSP00000384237:D463Y	ENSP00000264709:D686Y	D	-	1	0	DNMT3A	25317961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.568000	0.86640	0.555000	0.69702	GAC		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		11	22	1	0	0.000673444	1	0.000707116	11	22				
AFAP1L1	134265	broad.mit.edu	37	5	148699992	148699992	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:148699992G>A	ENST00000296721.4	+	14	1762	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R555Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	555						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAGCCCCGAGTCTATGAT	0.458																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1663-1665)cGa>cAa		actin filament associated protein 1-like 1							114.0	106.0	109.0					5																	148699992		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148699992G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1664G>A	5.37:g.148699992G>A	ENSP00000296721:p.Arg555Gln					AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R555Q	p.R555Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1762	+			555					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.1664G>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178948	0.57692	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.16743	2.32;2.32	5.41	4.54	0.55810	.	0.214512	0.35291	N	0.003303	T	0.26738	0.0654	L	0.58101	1.795	0.42862	D	0.994117	D;P	0.62365	0.991;0.913	P;B	0.55087	0.768;0.121	T	0.02121	-1.1210	10	0.41790	T	0.15	-11.2794	8.0161	0.30383	0.084:0.171:0.7451:0.0	.	555;555	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	Q	555	ENSP00000296721:R555Q;ENSP00000424427:R555Q	ENSP00000296721:R555Q	R	+	2	0	AFAP1L1	148680185	1.000000	0.71417	0.902000	0.35471	0.958000	0.62258	4.062000	0.57492	1.544000	0.49359	-0.122000	0.15005	CGA		0.458	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		5	50	0	0	0	1	0	5	50				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	6	0	0	0	1	0	3	6				
SOHLH2	54937	broad.mit.edu	37	13	36748670	36748670	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:36748670C>G	ENST00000379881.3	-	8	912	c.824G>C	c.(823-825)tGt>tCt	p.C275S	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.C352S|SOHLH2_ENST00000554962.1_Missense_Mutation_p.C352S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	275					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTGTTTCTTACAAAACCTCAT	0.383																																						ENST00000379881.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(823-825)tGt>tCt		spermatogenesis and oogenesis specific basic helix-loop-helix 2							207.0	202.0	204.0					13																	36748670		2203	4300	6503	SO:0001583	missense	54937							g.chr13:36748670C>G	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.824G>C	13.37:g.36748670C>G	ENSP00000369210:p.Cys275Ser					SOHLH2_ENST00000554962.1_Missense_Mutation_p.C352S|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.C352S	p.C275S	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	8	912	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.824G>C	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974368	0.18736	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.33438	1.41;1.41;1.41	5.41	1.53	0.23141	Helix-loop-helix DNA-binding (1);	0.291198	0.30419	N	0.009663	T	0.25044	0.0608	L	0.39633	1.23	0.24389	N	0.994751	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.005	T	0.15521	-1.0434	10	0.25751	T	0.34	-2.8382	15.1849	0.72993	0.0:0.4109:0.5891:0.0	.	352;275	B4DX90;Q9NX45	.;SOLH2_HUMAN	S	275;352;352	ENSP00000369210:C275S;ENSP00000451542:C352S;ENSP00000421868:C352S	ENSP00000421868:C352S	C	-	2	0	CCDC169-SOHLH2;SOHLH2	35646670	1.000000	0.71417	0.979000	0.43373	0.574000	0.36063	0.669000	0.25142	-0.024000	0.13941	-0.172000	0.13284	TGT		0.383	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		11	61	0	0	0	1	0	11	61				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	6	1	0	1.23904e-05	1	1.34585e-05	3	6				
GRIK1	2897	broad.mit.edu	37	21	31045398	31045398	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:31045398C>A	ENST00000399907.1	-	4	1042	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	GRIK1_ENST00000309434.7_Missense_Mutation_p.D211Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.D211Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D211Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D211Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399914.1_Missense_Mutation_p.D211Y	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	211					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GGCTTGGCATCTTTATTCCCA	0.403																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(631-633)Gat>Tat		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						125.0	132.0	130.0					21																	31045398		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31045398C>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.631G>T	21.37:g.31045398C>A	ENSP00000382791:p.Asp211Tyr					GRIK1_ENST00000309434.7_Missense_Mutation_p.D211Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.D211Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D211Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D211Y	p.D211Y			P39086	GRIK1_HUMAN			4	1152	-			211					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.631G>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656671	0.88154	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.506351	0.22188	N	0.063413	T	0.61375	0.2342	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.73380	0.98;0.98;0.963;0.98;0.98;0.966	T	0.64786	-0.6325	10	0.87932	D	0	.	19.1745	0.93599	0.0:1.0:0.0:0.0	.	211;211;211;211;211;211	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	Y	211;211;211;211;211;155;211;211;211;211	ENSP00000327687:D211Y;ENSP00000373777:D211Y;ENSP00000382797:D211Y;ENSP00000382798:D211Y;ENSP00000446326:D211Y;ENSP00000373776:D211Y;ENSP00000382791:D211Y;ENSP00000382793:D211Y;ENSP00000311646:D211Y	ENSP00000311646:D211Y	D	-	1	0	GRIK1	29967269	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.628000	0.83189	2.850000	0.98022	0.650000	0.86243	GAT		0.403	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			19	140	1	0	5.35267e-07	1	6.02175e-07	19	140				
LRP2	4036	broad.mit.edu	37	2	170093622	170093622	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:170093622G>A	ENST00000263816.3	-	28	4967	c.4682C>T	c.(4681-4683)cCc>cTc	p.P1561L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1561					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTTCATTCTGGGATCTAATGC	0.368																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4681-4683)cCc>cTc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						116.0	114.0	115.0					2																	170093622		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170093622G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4682C>T	2.37:g.170093622G>A	ENSP00000263816:p.Pro1561Leu						p.P1561L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	28	4967	-			1561					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4682C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988758	0.93106	.	.	ENSG00000081479	ENST00000263816	D	0.95518	-3.73	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98548	0.9515	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99453	1.0941	10	0.87932	D	0	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	1561	P98164	LRP2_HUMAN	L	1561	ENSP00000263816:P1561L	ENSP00000263816:P1561L	P	-	2	0	LRP2	169801868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.779000	0.99018	2.639000	0.89480	0.650000	0.86243	CCC		0.368	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		9	69	0	0	0	1	0	9	69				
ITIH6	347365	broad.mit.edu	37	X	54823433	54823433	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:54823433G>T	ENST00000218436.6	-	2	228	c.199C>A	c.(199-201)Cat>Aat	p.H67N		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	67	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ATGGCTTCATGGGCTTCAGCA	0.458																																						ENST00000218436.6																			0											c.(199-201)Cat>Aat		inter-alpha-trypsin inhibitor heavy chain family, member 6							172.0	129.0	143.0					X																	54823433		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54823433G>T	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.199C>A	X.37:g.54823433G>T	ENSP00000218436:p.His67Asn						p.H67N	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			2	228	-			67			VIT.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.199C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153325	0.57259	.	.	ENSG00000102313	ENST00000218436	T	0.21361	2.01	4.82	2.91	0.33838	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.299670	0.26279	U	0.025292	T	0.13586	0.0329	L	0.36672	1.1	0.25348	N	0.98889	P	0.44380	0.834	B	0.40901	0.343	T	0.10222	-1.0639	10	0.21540	T	0.41	.	5.0451	0.14479	0.1086:0.0:0.4854:0.406	.	67	Q6UXX5	ITH5L_HUMAN	N	67	ENSP00000218436:H67N	ENSP00000218436:H67N	H	-	1	0	ITIH5L	54840158	0.998000	0.40836	0.201000	0.23476	0.891000	0.51852	2.637000	0.46553	0.826000	0.34661	0.506000	0.49869	CAT		0.458	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		3	40	1	0	2.56e-06	1	2.82947e-06	3	40				
SERPINB7	8710	broad.mit.edu	37	18	61449741	61449741	+	Silent	SNP	C	C	T	rs560338179	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:61449741C>T	ENST00000398019.2	+	2	460	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SERPINB7_ENST00000546027.1_Silent_p.G45G|SERPINB7_ENST00000540675.1_Silent_p.G45G|SERPINB7_ENST00000336429.2_Silent_p.G45G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	45					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCCGCTTGGGCGCTCAAGATG	0.478													C|||	3	0.000599042	0.0	0.0	5008	,	,		16748	0.003		0.0	False		,,,				2504	0.0					ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(133-135)ggC>ggT		serpin peptidase inhibitor, clade B (ovalbumin), member 7							108.0	92.0	97.0					18																	61449741		2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61449741C>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.135C>T	18.37:g.61449741C>T						SERPINB7_ENST00000546027.1_Silent_p.G45G|SERPINB7_ENST00000336429.2_Silent_p.G45G|SERPINB7_ENST00000540675.1_Silent_p.G45G	p.G45G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			2	460	+		Esophageal squamous(42;0.129)	45					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.135C>T	CCDS11988.1																																																																																				0.478	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		21	56	0	0	0	1	0	21	56				
KCNQ3	3786	broad.mit.edu	37	8	133142022	133142022	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr8:133142022C>T	ENST00000388996.4	-	15	2526	c.2106G>A	c.(2104-2106)gtG>gtA	p.V702V	KCNQ3_ENST00000519445.1_Silent_p.V690V|KCNQ3_ENST00000521134.1_Silent_p.V582V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	702					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGTCAATGGTCACCTGGTGGA	0.527																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2104-2106)gtG>gtA		potassium voltage-gated channel, KQT-like subfamily, member 3							68.0	63.0	65.0					8																	133142022		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133142022C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2106G>A	8.37:g.133142022C>T						KCNQ3_ENST00000521134.1_Silent_p.V582V|KCNQ3_ENST00000519445.1_Silent_p.V690V	p.V702V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2526	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		702					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.2106G>A	CCDS34943.1																																																																																				0.527	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		13	45	0	0	0	1	0	13	45				
AKAP7	9465	broad.mit.edu	37	6	131574228	131574228	+	Intron	SNP	T	T	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:131574228T>C	ENST00000431975.2	+	8	948				AKAP7_ENST00000342266.4_Intron|AKAP7_ENST00000368123.4_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000474850.2_Missense_Mutation_p.I34T|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000263050.3_Intron	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7							cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGCAAGGATATACCCAGTTGG	0.443																																						ENST00000474850.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(100-102)aTa>aCa		A kinase (PRKA) anchor protein 7							154.0	150.0	151.0					6																	131574228		2203	4300	6503	SO:0001627	intron_variant	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131574228T>C	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.851-28442T>C	6.37:g.131574228T>C						AKAP7_ENST00000368123.4_Intron|AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000431975.2_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000342266.4_Intron	p.I34T	NM_138633.2	NP_619539.1	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	2	239	+	Breast(56;0.152)		34			Required for apical membrane localization.		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.101T>C	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	T	7.350	0.622690	0.14193	.	.	ENSG00000118507	ENST00000474850	.	.	.	5.28	-6.61	0.01818	.	.	.	.	.	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.34650	-0.9820	8	0.37606	T	0.19	.	13.2684	0.60148	0.0:0.0746:0.7107:0.2147	.	34	O43687	AKA7A_HUMAN	T	34	.	ENSP00000418208:I34T	I	+	2	0	AKAP7	131615921	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	-0.433000	0.06948	-0.809000	0.04381	0.454000	0.30748	ATA		0.443	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		14	28	0	0	0	1	0	14	28				
RAB19	401409	broad.mit.edu	37	7	140111797	140111797	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:140111797C>T	ENST00000356407.3	+	2	393	c.325C>T	c.(325-327)Cct>Tct	p.P109S	RAB19_ENST00000537763.1_Missense_Mutation_p.P109S|RAB19_ENST00000275874.5_Missense_Mutation_p.P156S			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	109					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CGAGTCCATCCCTCACTGGAT	0.498																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(466-468)Cct>Tct		RAB19, member RAS oncogene family							176.0	151.0	160.0					7																	140111797		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140111797C>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.325C>T	7.37:g.140111797C>T	ENSP00000348778:p.Pro109Ser					RAB19_ENST00000356407.3_Missense_Mutation_p.P109S|RAB19_ENST00000537763.1_Missense_Mutation_p.P109S	p.P156S			A4D1S5	RAB19_HUMAN			4	664	+	Melanoma(164;0.0142)		109					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.466C>T	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264025	0.23136	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.66	4.78	0.61160	Small GTP-binding protein domain (1);	0.146747	0.64402	D	0.000007	T	0.64702	0.2622	N	0.11154	0.105	0.58432	D	0.999999	P	0.48407	0.91	P	0.48677	0.586	T	0.70992	-0.4721	10	0.62326	D	0.03	.	13.683	0.62499	0.0:0.926:0.0:0.074	.	109	A4D1S5	RAB19_HUMAN	S	109;156;109;109	ENSP00000420782:P109S;ENSP00000275874:P156S;ENSP00000440167:P109S;ENSP00000348778:P109S	ENSP00000275874:P156S	P	+	1	0	RAB19	139758266	1.000000	0.71417	0.332000	0.25469	0.165000	0.22458	3.850000	0.55918	1.402000	0.46780	-0.324000	0.08512	CCT		0.498	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			22	130	0	0	0	1	0	22	130				
AXDND1	126859	broad.mit.edu	37	1	179354494	179354494	+	Splice_Site	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:179354494G>A	ENST00000367618.3	+	9	1250	c.863G>A	c.(862-864)aGa>aAa	p.R288K	AXDND1_ENST00000457238.2_Splice_Site_p.R288K|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	288										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTAAAGTCAGGTTAGTGCTG	0.358																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.e9+1		axonemal dynein light chain domain containing 1							180.0	178.0	179.0					1																	179354494		2203	4300	6503	SO:0001630	splice_region_variant	126859							g.chr1:179354494G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.863+1G>A	1.37:g.179354494G>A						AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Splice_Site_p.R288_splice	p.R288_splice	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			9	1250	+			288					Q6AWB2|Q96LJ3|Q96M01	Splice_Site	SNP	ENST00000367618.3	37	c.863_splice	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	35	5.564826	0.96527	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.58506	1.53;0.33;1.66	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.86178	2.8	0.50313	D	0.999861	D;D;D	0.89917	0.979;0.992;1.0	D;D;D	0.83275	0.982;0.989;0.996	T	0.81263	-0.1012	10	0.59425	D	0.04	-7.083	17.357	0.87338	0.0:0.0:1.0:0.0	.	246;288;288	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	K	288;246;288;222	ENSP00000356590:R288K;ENSP00000416712:R288K;ENSP00000391716:R222K	ENSP00000353471:R246K	R	+	2	0	AXDND1	177621117	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.393000	0.90182	2.699000	0.92147	0.655000	0.94253	AGA		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	Missense_Mutation	15	46	0	0	0	1	0	15	46				
OR1M1	125963	broad.mit.edu	37	19	9204135	9204135	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9204135G>C	ENST00000429566.3	+	1	281	c.215G>C	c.(214-216)tGt>tCt	p.C72S		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTTGATTTCTGTCTGGCCACC	0.547																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(214-216)tGt>tCt		olfactory receptor, family 1, subfamily M, member 1							107.0	80.0	89.0					19																	9204135		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204135G>C		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.215G>C	19.37:g.9204135G>C	ENSP00000401966:p.Cys72Ser						p.C72S	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	281	+			72					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.215G>C	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	7.602	0.672957	0.14776	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.79247	-1.25	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.73194	0.3556	M	0.71871	2.18	0.09310	N	1	B	0.32245	0.361	B	0.30401	0.115	T	0.68044	-0.5513	10	0.51188	T	0.08	.	9.6556	0.39923	0.0:0.0:0.7914:0.2085	.	72	Q8NGA1	OR1M1_HUMAN	S	75;72	ENSP00000401966:C72S	ENSP00000303195:C75S	C	+	2	0	OR1M1	9065135	0.013000	0.17824	0.005000	0.12908	0.520000	0.34377	1.922000	0.40045	1.949000	0.56562	0.400000	0.26472	TGT		0.547	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			13	57	0	0	0	1	0	13	57				
AGAP7P	653268	broad.mit.edu	37	10	51464823	51464823	+	Missense_Mutation	SNP	G	G	A	rs370476894		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:51464823G>A	ENST00000374095.5	-	7	1758	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		545	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TATTTGGAACGGATCCACCGT	0.582																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1633-1635)Cgt>Tgt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7		G	CYS/ARG	0,4394		0,0,2197	74.0	93.0	87.0		1633		0.0	10		87	1,8585		0,1,4292	no	missense	AGAP7	NM_001077685.1	180	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	545/664	51464823	1,12979	2197	4293	6490	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51464823G>A																												ENST00000374095.5:c.1633C>T	10.37:g.51464823G>A	ENSP00000363208:p.Arg545Cys						p.R545C	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1758	-			545			Arf-GAP.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1633C>T	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.373392	0.42105	0.0	1.16E-4	ENSG00000204169	ENST00000374095	T	0.50277	0.75	.	.	.	.	0.135172	0.51477	D	0.000085	T	0.74045	0.3665	H	0.97829	4.085	0.58432	D	0.999998	D	0.58970	0.984	D	0.68192	0.956	T	0.72456	-0.4288	9	0.87932	D	0	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	545	Q5VUJ5	AGAP7_HUMAN	C	545	ENSP00000363208:R545C	ENSP00000363208:R545C	R	-	1	0	AGAP7	51134829	1.000000	0.71417	0.022000	0.16811	0.022000	0.10575	3.522000	0.53480	0.172000	0.19760	0.175000	0.17021	CGT		0.582	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			4	111	0	0	0	1	0	4	111				
MAPK7	5598	broad.mit.edu	37	17	19284565	19284565	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:19284565C>G	ENST00000308406.5	+	4	1429	c.1043C>G	c.(1042-1044)gCc>gGc	p.A348G	MAPK7_ENST00000395604.3_Missense_Mutation_p.A348G|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.A348G|MAPK7_ENST00000299612.7_Missense_Mutation_p.A209G|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	348	Necessary for oligomerization. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTTTCCTGGCCAAGTACCAT	0.612																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(1042-1044)gCc>gGc		mitogen-activated protein kinase 7							52.0	49.0	50.0					17																	19284565		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284565C>G	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1043C>G	17.37:g.19284565C>G	ENSP00000311005:p.Ala348Gly					MAPK7_ENST00000395602.4_Missense_Mutation_p.A348G|MAPK7_ENST00000395604.3_Missense_Mutation_p.A348G|MAPK7_ENST00000299612.7_Missense_Mutation_p.A209G|MAPK7_ENST00000571657.1_Intron	p.A348G	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			4	1429	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		348			Necessary for oligomerization (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.1043C>G	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515370	0.64634	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.04	4.06	0.47325	Protein kinase-like domain (1);	0.181068	0.48286	D	0.000187	T	0.47619	0.1455	M	0.82517	2.595	0.44694	D	0.997685	B	0.16166	0.016	B	0.09377	0.004	T	0.51926	-0.8643	10	0.72032	D	0.01	-17.6171	13.3003	0.60321	0.0:0.84:0.16:0.0	.	348	Q13164	MK07_HUMAN	G	348;209;348;348	ENSP00000311005:A348G;ENSP00000299612:A209G;ENSP00000378968:A348G;ENSP00000378966:A348G	ENSP00000299612:A209G	A	+	2	0	MAPK7	19225158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.491000	0.53252	1.100000	0.41517	0.561000	0.74099	GCC		0.612	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		5	54	0	0	0	1	0	5	54				
TMPRSS11E	28983	broad.mit.edu	37	4	69344613	69344613	+	Silent	SNP	C	C	T	rs144869043		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr4:69344613C>T	ENST00000305363.4	+	9	1078	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	338	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTCTCATAGACGCTACAACTT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18028	0.0		0.0	False		,,,				2504	0.001					ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(1012-1014)gaC>gaT		transmembrane protease, serine 11E		C		0,4406		0,0,2203	170.0	162.0	164.0		1014	1.6	0.2	4	dbSNP_134	164	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	TMPRSS11E	NM_014058.3		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		338/424	69344613	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344613C>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1014C>T	4.37:g.69344613C>T							p.D338D	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			9	1078	+			338			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Silent	SNP	ENST00000305363.4	37	c.1014C>T	CCDS33993.1																																																																																				0.363	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		31	204	0	0	0	1	0	31	204				
PKD2L2	27039	broad.mit.edu	37	5	137259133	137259133	+	Missense_Mutation	SNP	G	G	T	rs375362258		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:137259133G>T	ENST00000508883.1	+	10	1500	c.1474G>T	c.(1474-1476)Gat>Tat	p.D492Y	PKD2L2_ENST00000290431.5_Missense_Mutation_p.D492Y|PKD2L2_ENST00000502810.1_Missense_Mutation_p.D470Y|PKD2L2_ENST00000508638.1_Missense_Mutation_p.D391Y|PKD2L2_ENST00000350250.4_Missense_Mutation_p.D458Y			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	492					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATTATTAATGATACCTATTC	0.274																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1171-1173)Gat>Tat		polycystic kidney disease 2-like 2							62.0	59.0	60.0					5																	137259133		1791	4053	5844	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137259133G>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1474G>T	5.37:g.137259133G>T	ENSP00000424725:p.Asp492Tyr					PKD2L2_ENST00000502810.1_Missense_Mutation_p.D470Y|PKD2L2_ENST00000290431.5_Missense_Mutation_p.D492Y|PKD2L2_ENST00000350250.4_Missense_Mutation_p.D458Y|PKD2L2_ENST00000508883.1_Missense_Mutation_p.D492Y	p.D391Y	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		8	1226	+			391					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.1171G>T		.	.	.	.	.	.	.	.	.	.	G	15.49	2.849684	0.51270	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.72725	-0.68;-0.08;-0.68;-0.68;-0.68	5.4	4.52	0.55395	Polycystin cation channel, PKD1/PKD2 (1);	0.080274	0.52532	N	0.000065	T	0.80959	0.4724	M	0.84082	2.675	0.49798	D	0.999823	P;P;B	0.51653	0.711;0.947;0.197	P;P;B	0.53224	0.721;0.453;0.063	D	0.84495	0.0613	10	0.87932	D	0	-12.2795	15.0849	0.72145	0.0:0.0:0.8568:0.1432	.	492;391;492	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	Y	458;391;470;492;492	ENSP00000344177:D458Y;ENSP00000423382:D391Y;ENSP00000425513:D470Y;ENSP00000424725:D492Y;ENSP00000290431:D492Y	ENSP00000290431:D492Y	D	+	1	0	PKD2L2	137287032	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.251000	0.58778	1.248000	0.43934	0.591000	0.81541	GAT		0.274	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		9	88	1	0	0.000978159	1	0.00101023	9	88				
UMODL1	89766	broad.mit.edu	37	21	43547321	43547321	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:43547321G>A	ENST00000408910.2	+	19	3499	c.3499G>A	c.(3499-3501)Gac>Aac	p.D1167N	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.D1223N|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1295N|UMODL1_ENST00000400424.2_Missense_Mutation_p.D1095N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1167	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAACGCCCGGGACCCCATCAC	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3667-3669)Gac>Aac		uromodulin-like 1							54.0	55.0	55.0					21																	43547321		1943	4142	6085	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547321G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3499G>A	21.37:g.43547321G>A	ENSP00000386147:p.Asp1167Asn					UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1295N|UMODL1_ENST00000408910.2_Missense_Mutation_p.D1167N|UMODL1_ENST00000400424.1_Missense_Mutation_p.D1095N	p.D1223N	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			18	4063	+			1167			ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.3667G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863070	0.51482	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	3.43	3.43	0.39272	Zona pellucida sperm-binding protein (3);	0.000000	0.45606	D	0.000353	D	0.87030	0.6076	L	0.46670	1.46	0.42244	D	0.991948	D;D	0.89917	1.0;0.985	D;D	0.87578	0.998;0.911	D	0.86304	0.1682	9	.	.	.	-39.7818	14.312	0.66422	0.0:0.0:1.0:0.0	.	1295;1167	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	N	1223;1095;1295;1167;52	ENSP00000383279:D1223N;ENSP00000383276:D1095N;ENSP00000386126:D1295N;ENSP00000386147:D1167N	.	D	+	1	0	UMODL1	42420390	1.000000	0.71417	0.995000	0.50966	0.420000	0.31355	5.472000	0.66768	2.219000	0.72066	0.462000	0.41574	GAC		0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			21	32	0	0	0	1	0	21	32				
FLT4	2324	broad.mit.edu	37	5	180038363	180038363	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:180038363C>T	ENST00000261937.6	-	27	3732	c.3654G>A	c.(3652-3654)ccG>ccA	p.P1218P	FLT4_ENST00000393347.3_Silent_p.P1218P|FLT4_ENST00000502649.1_Silent_p.P1218P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1218					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGCTTGGCGGGCTGTCCT	0.637																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3652-3654)ccG>ccA		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						69.0	72.0	71.0					5																	180038363		2203	4299	6502	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180038363C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3654G>A	5.37:g.180038363C>T						FLT4_ENST00000502649.1_Silent_p.P1218P|FLT4_ENST00000393347.3_Silent_p.P1218P	p.P1218P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	27	3732	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1218					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.3654G>A	CCDS4457.1																																																																																				0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			15	97	0	0	0	1	0	15	97				
ARMC2	84071	broad.mit.edu	37	6	109286254	109286254	+	Nonsense_Mutation	SNP	G	G	A	rs201757827		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:109286254G>A	ENST00000392644.4	+	17	2525	c.2357G>A	c.(2356-2358)tGg>tAg	p.W786*	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Nonsense_Mutation_p.W621*	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	786										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAACTTTATGGAACTTCAGT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17343	0.0		0.001	False		,,,				2504	0.0					ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(2356-2358)tGg>tAg		armadillo repeat containing 2							195.0	194.0	194.0					6																	109286254		2203	4300	6503	SO:0001587	stop_gained	84071						binding	g.chr6:109286254G>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.2357G>A	6.37:g.109286254G>A	ENSP00000376417:p.Trp786*					ARMC2_ENST00000368972.3_Nonsense_Mutation_p.W621*|ARMC2_ENST00000481850.1_3'UTR	p.W786*	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	17	2525	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	786					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Nonsense_Mutation	SNP	ENST00000392644.4	37	c.2357G>A	CCDS5069.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	42	9.816442	0.99271	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	.	.	.	4.89	4.89	0.63831	.	0.056711	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8453	0.88728	0.0:0.0:1.0:0.0	.	.	.	.	X	621;786	.	ENSP00000357968:W621X	W	+	2	0	ARMC2	109392947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.546000	0.85860	0.555000	0.69702	TGG		0.373	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		16	166	0	0	0	1	0	16	166				
ATP6V1G3	127124	broad.mit.edu	37	1	198492549	198492549	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198492549A>G	ENST00000367382.1	-	3	413	c.329T>C	c.(328-330)aTc>aCc	p.I110T	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.I116T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.I116T			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	110					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GTTCACATGGATTTCTGGTTT	0.393																																						ENST00000367381.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(346-348)aTc>aCc		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							172.0	142.0	152.0					1																	198492549		2203	4300	6503	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198492549A>G	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.329T>C	1.37:g.198492549A>G	ENSP00000356352:p.Ile110Thr					ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.I116T|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.I110T	p.I116T			Q96LB4	VATG3_HUMAN			5	452	-			110					Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.347T>C	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867226	0.51588	.	.	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.47869	0.83;0.85;0.83;0.85	4.84	4.84	0.62591	.	0.290969	0.39083	N	0.001476	T	0.52933	0.1765	M	0.81497	2.545	0.32054	N	0.596551	P;B	0.37330	0.59;0.319	B;B	0.37943	0.261;0.134	T	0.69829	-0.5039	10	0.87932	D	0	-19.1021	14.0499	0.64730	1.0:0.0:0.0:0.0	.	116;110	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	T	110;116;110;116	ENSP00000356352:I110T;ENSP00000356351:I116T;ENSP00000281087:I110T;ENSP00000417171:I116T	ENSP00000281087:I110T	I	-	2	0	ATP6V1G3	196759172	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	4.599000	0.61076	2.154000	0.67381	0.533000	0.62120	ATC		0.393	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		6	31	0	0	0	1	0	6	31				
RNF125	54941	broad.mit.edu	37	18	29645962	29645962	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:29645962A>C	ENST00000217740.3	+	5	1094	c.602A>C	c.(601-603)gAt>gCt	p.D201A	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	201					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGTTTTATGATGATTTCATA	0.338																																						ENST00000217740.3																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(601-603)gAt>gCt		ring finger protein 125, E3 ubiquitin protein ligase							136.0	133.0	134.0					18																	29645962		2203	4300	6503	SO:0001583	missense	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29645962A>C	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.602A>C	18.37:g.29645962A>C	ENSP00000217740:p.Asp201Ala					RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	p.D201A	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN			5	1094	+			201					Q9NX39	Missense_Mutation	SNP	ENST00000217740.3	37	c.602A>C	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279971	0.59758	.	.	ENSG00000101695	ENST00000217740	D	0.85258	-1.96	5.83	5.83	0.93111	.	0.106809	0.41823	D	0.000809	D	0.85133	0.5627	M	0.69358	2.11	0.39042	D	0.960153	P	0.46784	0.884	B	0.43990	0.438	D	0.87687	0.2551	10	0.66056	D	0.02	-14.135	12.584	0.56406	1.0:0.0:0.0:0.0	.	201	Q96EQ8	RN125_HUMAN	A	201	ENSP00000217740:D201A	ENSP00000217740:D201A	D	+	2	0	RNF125	27899960	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	3.063000	0.49978	2.223000	0.72356	0.519000	0.50382	GAT		0.338	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		11	70	0	0	0	1	0	11	70				
HMMR	3161	broad.mit.edu	37	5	162909742	162909742	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:162909742G>A	ENST00000358715.3	+	13	1513	c.1477G>A	c.(1477-1479)Gat>Aat	p.D493N	HMMR_ENST00000353866.3_Missense_Mutation_p.D478N|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.D494N|HMMR_ENST00000432118.2_Missense_Mutation_p.D407N			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	493					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAATGCAGAGGATGTTCAGCA	0.378																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1135-1137)Gat>Aat		hyaluronan-mediated motility receptor (RHAMM)							82.0	82.0	82.0					5																	162909742		2203	4300	6503	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162909742G>A	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1477G>A	5.37:g.162909742G>A	ENSP00000351554:p.Asp493Asn					HMMR_ENST00000358715.3_Missense_Mutation_p.D493N|HMMR_ENST00000432118.2_Missense_Mutation_p.D407N|HMMR_ENST00000353866.3_Missense_Mutation_p.D478N|HMMR_ENST00000393915.4_Missense_Mutation_p.D494N	p.D379N			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	13	1632	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	493					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.1135G>A	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905391	0.33628	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.43	4.53	0.55603	.	0.586050	0.18876	N	0.128718	T	0.22742	0.0549	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.994	P;D;P;P	0.69479	0.869;0.964;0.827;0.869	T	0.02560	-1.1141	10	0.31617	T	0.26	-23.9706	14.6144	0.68539	0.0:0.1576:0.8424:0.0	.	407;494;478;493	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	N	379;478;494;470;407;493	ENSP00000400527:D379N;ENSP00000185942:D478N;ENSP00000377492:D494N;ENSP00000402673:D407N;ENSP00000351554:D493N	ENSP00000185942:D478N	D	+	1	0	HMMR	162842320	0.997000	0.39634	0.408000	0.26446	0.040000	0.13550	3.021000	0.49651	2.810000	0.96702	0.650000	0.86243	GAT		0.378	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		18	46	0	0	0	1	0	18	46				
MAP3K19	80122	broad.mit.edu	37	2	135744237	135744237	+	Silent	SNP	C	C	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:135744237C>T	ENST00000375845.3	-	7	2235	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E	MAP3K19_ENST00000392915.1_Silent_p.E752E|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.E622E|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	735							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										AGACTTTGTGCTCTTGTTTAA	0.373																																						ENST00000375845.3																			0											c.(2203-2205)gaG>gaA		mitogen-activated protein kinase kinase kinase 19							85.0	83.0	84.0					2																	135744237		2203	4300	6503	SO:0001819	synonymous_variant	80122							g.chr2:135744237C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2205G>A	2.37:g.135744237C>T						MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.E622E|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.E752E|MAP3K19_ENST00000392918.3_Intron	p.E735E	NM_025052.3	NP_079328.3					7	2235	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.2205G>A	CCDS2176.2																																																																																				0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		11	97	0	0	0	1	0	11	97				
HMCN1	83872	broad.mit.edu	37	1	186105941	186105941	+	Missense_Mutation	SNP	G	G	A	rs374051668		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:186105941G>A	ENST00000271588.4	+	87	13683	c.13454G>A	c.(13453-13455)cGg>cAg	p.R4485Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGGATGACCGGGTTAACGTG	0.433																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13453-13455)cGg>cAg		hemicentin 1							107.0	111.0	110.0					1																	186105941		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186105941G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13454G>A	1.37:g.186105941G>A	ENSP00000271588:p.Arg4485Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			87	13683	+			4485			Ig-like C2-type 44.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13454G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967589	0.74131	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.37411	1.2;1.2	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055113	0.64402	D	0.000001	T	0.63674	0.2531	M	0.80508	2.5	0.47547	D	0.999454	D	0.89917	1.0	D	0.79784	0.993	T	0.64032	-0.6502	10	0.41790	T	0.15	.	19.08	0.93178	0.0:0.0:1.0:0.0	.	4485	Q96RW7	HMCN1_HUMAN	Q	4485	ENSP00000271588:R4485Q;ENSP00000356462:R4485Q	ENSP00000271588:R4485Q	R	+	2	0	HMCN1	184372564	1.000000	0.71417	0.891000	0.34965	0.283000	0.27025	6.001000	0.70685	2.587000	0.87381	0.655000	0.94253	CGG		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		14	57	0	0	0	1	0	14	57				
TNRC18	84629	broad.mit.edu	37	7	5360010	5360010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:5360010delG	ENST00000430969.1	-	24	7032	c.6684delC	c.(6682-6684)accfs	p.T2228fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.T2228fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2228							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTGCAATCCTGGTCCCTTGTG	0.597																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(6682-6684)acfs		trinucleotide repeat containing 18							43.0	42.0	42.0					7																	5360010		1561	3571	5132	SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5360010delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6684delC	7.37:g.5360010delG	ENSP00000395538:p.Thr2228fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.T2228fs	p.T2228fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	24	7032	-		Ovarian(82;0.142)	2228					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.6684delC	CCDS47534.1																																																																																				0.597	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245237	46245238	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr12:46245237_46245238insT	ENST00000334344.6	+	15	3503_3504	c.3331_3332insT	c.(3331-3333)gtgfs	p.V1111fs	ARID2_ENST00000422737.1_Frame_Shift_Ins_p.V962fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.V721fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1111	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGGTTTTGGAGTGCAGGGGCAA	0.545			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3331-3333)gcafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245237_46245238insT		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3332dupT	12.37:g.46245238_46245238dupT	ENSP00000335044:p.Val1111fs					ARID2_ENST00000444670.1_Frame_Shift_Ins_p.A721fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.A962fs|ARID2_ENST00000479608.1_3'UTR	p.A1111fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3503_3504	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1111			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.3331_3332insT	CCDS31783.1																																																																																				0.545	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		16	49						16	49	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43045134	43045138	+	Frame_Shift_Del	DEL	AAATT	AAATT	-	rs546749426		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:43045134_43045138delAAATT	ENST00000267890.6	-	14	2414_2418	c.2306_2310delAATTT	c.(2305-2310)gaatttfs	p.EF769fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	769					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGAGATTTTCAAATTCTCTCACAAC	0.39																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2305-2310)gfs		tau tubulin kinase 2																																				SO:0001589	frameshift_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43045134_43045138delAAATT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2306_2310delAATTT	15.37:g.43045134_43045138delAAATT	ENSP00000267890:p.Glu769fs						p.EF769fs	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2414_2418	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	769					O94932|Q6ZN52|Q8IVV1	Frame_Shift_Del	DEL	ENST00000267890.6	37	c.2306_2310delAATTT	CCDS42029.1																																																																																				0.390	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		20	180						20	180	---	---	---	---
MEX3B	84206	broad.mit.edu	37	15	82337987	82337989	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:82337987_82337989delGCC	ENST00000329713.4	-	1	493_495	c.58_60delGGC	c.(58-60)ggcdel	p.G20del	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_In_Frame_Del_p.G20del	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	20					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTccgctgctgccgccgccgccg	0.754																																						ENST00000558133.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(58-60)del		mex-3 RNA binding family member B				21,1671		5,11,830						0.1	0.0			5	107,3841		10,87,1877	no	coding	MEX3B	NM_032246.3		15,98,2707	A1A1,A1R,RR		2.7102,1.2411,2.2695				128,5512				SO:0001651	inframe_deletion	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82337987_82337989delGCC	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.58_60delGGC	15.37:g.82337996_82337998delGCC	ENSP00000329918:p.Gly20del					MEX3B_ENST00000329713.4_In_Frame_Del_p.G20del	p.G20del			Q6ZN04	MEX3B_HUMAN			1	471_473	-			20					Q4G0W1|Q8IVG2|Q9H0J0	In_Frame_Del	DEL	ENST00000329713.4	37	c.58_60delGGC	CCDS10319.1																																																																																				0.754	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		3	6						3	6	---	---	---	---
KRT17P4	339186	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-	rs374561720	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:16748911_16748913delGCT	ENST00000578037.1	-	0	593				KRT17P1_ENST00000580363.1_RNA																							CGCCCTCAAAGCTGCTGCTGCCA	0.65														2545	0.508187	0.5053	0.536	5008	,	,		12311	0.4067		0.5686	False		,,,				2504	0.5348					ENST00000580363.1																			0				lung(4)	4																																														0							g.chr17:16748911_16748913delGCT																													17.37:g.16748917_16748919delGCT														0	282_284	-									RNA	DEL	ENST00000578037.1	37																																																																																						0.650	AC022596.2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444295.1			4	2						4	2	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29527526	29527527	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29527526_29527527insA	ENST00000358273.4	+	9	1358_1359	c.975_976insA	c.(976-978)aaafs	p.K326fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.K326fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.K326fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	326					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGCCTGTGTCAAACTGTGTAA	0.406			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(973-978)gtaactfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527526_29527527insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.978dupA	17.37:g.29527529_29527529dupA	ENSP00000351015:p.Lys326fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Ins_p.T326fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.T326fs	p.T326fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	9	1358_1359	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	326					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.975_976insA	CCDS42292.1																																																																																				0.406	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	72						18	72	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34901690	34901691	+	Intron	INS	-	-	C			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:34901690_34901691insC	ENST00000304718.4	+	2	409				MYO19_ENST00000590081.1_5'Flank|GGNBP2_ENST00000485685.2_Frame_Shift_Ins_p.P40fs	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678																																						ENST00000485685.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(115-120)ggccgcfs		gametogenetin binding protein 2																																				SO:0001627	intron_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34901690_34901691insC	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.93+24->C	17.37:g.34901693_34901693dupC						GGNBP2_ENST00000304718.4_Intron	p.R40fs			Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	2	409_410	+		Breast(25;0.00957)|Ovarian(249;0.17)	0					B2RPK7|Q96T90|Q9GZR8|Q9H767	Frame_Shift_Ins	INS	ENST00000304718.4	37	c.117_118insC	CCDS11314.1																																																																																				0.678	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		4	3						4	3	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920157	76920157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:76920157delT	ENST00000373344.5	-	11	4134	c.3920delA	c.(3919-3921)aatfs	p.N1307fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1269fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1307	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTTTTCTTCATTTTGTTTTCC	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3919-3921)atfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						213.0	193.0	200.0					X																	76920157		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920157delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3920delA	X.37:g.76920157delT	ENSP00000362441:p.Asn1307fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1269fs	p.N1307fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4134	-			1307					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3920delA	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	47						44	47	---	---	---	---
