#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
EPHA10	284656	broad.mit.edu	37	1	38227382	38227382	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:38227382G>A	ENST00000373048.4	-	3	544	c.545C>T	c.(544-546)cCg>cTg	p.P182L	EPHA10_ENST00000427468.2_Missense_Mutation_p.P182L|EPHA10_ENST00000319637.6_Missense_Mutation_p.P182L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	182	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGGCTGAGCGGTCCGATCTC	0.657																																						uc009vvi.3																			0		p.P182P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(544-546)cCg>cTg		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							35.0	43.0	40.0					1																	38227382		2196	4299	6495	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227382G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.545C>T	1.37:g.38227382G>A	ENSP00000362139:p.Pro182Leu					EPHA10_uc001cbw.4_Missense_Mutation_p.P182L	p.P182L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	631	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	182					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.545C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071191	0.76301	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.10860	2.83;2.83;2.83	4.75	4.75	0.60458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.41294	D	0.000913	T	0.38852	0.1056	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.943;0.963	T	0.44544	-0.9321	10	0.87932	D	0	.	12.8681	0.57951	0.0:0.0:0.8261:0.1739	.	182;182	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	L	182	ENSP00000397746:P182L;ENSP00000362139:P182L;ENSP00000316395:P182L	ENSP00000316395:P182L	P	-	2	0	EPHA10	37999969	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.397000	0.52572	2.598000	0.87819	0.643000	0.83706	CCG		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
SLC2A1	6513	broad.mit.edu	37	1	43396302	43396302	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:43396302C>T	ENST00000426263.3	-	4	689	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.A171T	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	171					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTTACCTGGGCGATGAGGATG	0.642																																						uc001cik.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(511-513)Gcc>Acc		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	Etomidate(DB00292)						20.0	20.0	20.0					1																	43396302		2202	4300	6502	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396302C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.511G>A	1.37:g.43396302C>T	ENSP00000416293:p.Ala171Thr						p.A171T	NM_006516	NP_006507	P11166	GTR1_HUMAN			3	1036	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	171					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.511G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377259	0.82682	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000439722;ENST00000372500	D;D;D	0.81739	-1.53;-1.53;-1.53	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90803	0.7112	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.92411	0.5937	10	0.87932	D	0	.	16.6986	0.85342	0.0:1.0:0.0:0.0	.	171	P11166	GTR1_HUMAN	T	171;171;76;171	ENSP00000416293:A171T;ENSP00000395521:A76T;ENSP00000361578:A171T	ENSP00000361578:A171T	A	-	1	0	SLC2A1	43168889	1.000000	0.71417	0.987000	0.45799	0.355000	0.29361	7.487000	0.81328	2.534000	0.85438	0.555000	0.69702	GCC		0.642	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516	
KLF17	128209	broad.mit.edu	37	1	44595024	44595024	+	Splice_Site	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:44595024G>A	ENST00000372299.3	+	2	139		c.e2-1		KLF17_ENST00000476802.1_Splice_Site	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17						gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTTTCCCCAAGGATAACGAGA	0.483																																						uc001clp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.e2-1		Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.							118.0	115.0	116.0					1																	44595024		2203	4300	6503	SO:0001630	splice_region_variant	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595024G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.82-1G>A	1.37:g.44595024G>A						KLF17_uc009vxf.1_Splice_Site	p.D28_splice	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			2	140	+	Acute lymphoblastic leukemia(166;0.155)		28					Q86VQ7|Q8N805	Splice_Site	SNP	ENST00000372299.3	37	c.82_splice	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253051	0.39797	.	.	ENSG00000171872	ENST00000372299	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0216	0.58791	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLF17	44367611	0.999000	0.42202	0.928000	0.36995	0.059000	0.15707	3.127000	0.50484	2.788000	0.95919	0.557000	0.71058	.		0.483	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484	Intron
EPHX4	253152	broad.mit.edu	37	1	92495767	92495767	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:92495767G>A	ENST00000370383.4	+	1	229	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	44						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGAGCCTCGGCAAGGGGCCG	0.677																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(130-132)gGc>gAc		Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.							20.0	17.0	18.0					1																	92495767		2202	4299	6501	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92495767G>A	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.131G>A	1.37:g.92495767G>A	ENSP00000359410:p.Gly44Asp						p.G44D	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			0	235	+			44					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.131G>A	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703280	0.30232	.	.	ENSG00000172031	ENST00000370383	T	0.59364	0.27	3.63	3.63	0.41609	.	0.523471	0.20597	N	0.089235	T	0.31389	0.0795	L	0.44542	1.39	0.34346	D	0.689347	B	0.16396	0.017	B	0.21360	0.034	T	0.20207	-1.0282	10	0.35671	T	0.21	.	10.4819	0.44698	0.0:0.0:0.8054:0.1946	.	44	Q8IUS5	EPHX4_HUMAN	D	44	ENSP00000359410:G44D	ENSP00000359410:G44D	G	+	2	0	EPHX4	92268355	1.000000	0.71417	0.986000	0.45419	0.816000	0.46133	4.534000	0.60622	1.826000	0.53198	0.313000	0.20887	GGC		0.677	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cTa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>A	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>T	1.37:g.115256529T>A	ENSP00000358548:p.Gln61Leu	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61L	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>T	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844732	0.91197	.	.	ENSG00000213281	ENST00000369535	D	0.83992	-1.79	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.92446	0.7602	H	0.96748	3.875	0.80722	D	1	D	0.55800	0.973	P	0.61533	0.89	D	0.94664	0.7851	10	0.72032	D	0.01	.	15.0132	0.71565	0.0:0.0:0.0:1.0	.	61	P01111	RASN_HUMAN	L	61	ENSP00000358548:Q61L	ENSP00000358548:Q61L	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	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																																						uc021oul.1																			4	Substitution - coding silent(4)	p.K3445K(8)	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		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				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_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	p.K3445K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	82	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	
NBPF10	100132406	broad.mit.edu	37	1	145367751	145367751	+	Silent	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:145367751A>T	ENST00000342960.5	+	83	10382	c.10347A>T	c.(10345-10347)ggA>ggT	p.G3449G	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)			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)		aaagaaggggaagaagatcaa	0.413																																						uc021oul.1																			0				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.(10345-10347)ggA>ggT		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367751A>T	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.10347A>T	1.37:g.145367751A>T						NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	p.G3449G	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	82	10382	+	all_hematologic(923;0.032)		3449					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10347A>T	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
OR6K2	81448	broad.mit.edu	37	1	158669760	158669760	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:158669760C>T	ENST00000359610.2	-	1	726	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGAATGAATACGTAGAATTAC	0.453																																						uc001fsu.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(682-684)cGt>cAt		Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.							121.0	103.0	109.0					1																	158669760		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669760C>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.683G>A	1.37:g.158669760C>T	ENSP00000352626:p.Arg228His						p.R228H	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			0	683	-	all_hematologic(112;0.0378)		228					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.683G>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	7.175	0.588434	0.13812	.	.	ENSG00000196171	ENST00000359610	T	0.00262	8.4	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.169771	0.28317	N	0.015800	T	0.00073	0.0002	M	0.66506	2.035	0.09310	N	1	B	0.26602	0.154	B	0.27715	0.082	T	0.38564	-0.9655	10	0.59425	D	0.04	-4.2944	6.6808	0.23119	0.0:0.7333:0.0:0.2667	.	228	Q8NGY2	OR6K2_HUMAN	H	228	ENSP00000352626:R228H	ENSP00000352626:R228H	R	-	2	0	OR6K2	156936384	0.000000	0.05858	0.023000	0.16930	0.306000	0.27790	-0.223000	0.09177	1.283000	0.44513	0.655000	0.94253	CGT		0.453	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
GPR161	23432	broad.mit.edu	37	1	168066138	168066138	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:168066138C>G	ENST00000367838.1	-	5	1020	c.707G>C	c.(706-708)aGg>aCg	p.R236T	GPR161_ENST00000271357.5_Missense_Mutation_p.R236T|GPR161_ENST00000546300.1_Missense_Mutation_p.R122T|GPR161_ENST00000361697.2_Missense_Mutation_p.R236T|GPR161_ENST00000367836.1_Missense_Mutation_p.R104T|GPR161_ENST00000367835.1_Missense_Mutation_p.R236T|GPR161_ENST00000539777.1_Missense_Mutation_p.R158T|GPR161_ENST00000537209.1_Missense_Mutation_p.R256T	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	236					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCTCCCGGTCCTCTGAGCATC	0.597																																						uc010pln.2																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(766-768)aGg>aCg		Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.							96.0	98.0	97.0					1																	168066138		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168066138C>G	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.707G>C	1.37:g.168066138C>G	ENSP00000356812:p.Arg236Thr					GPR161_uc001gfb.3_Missense_Mutation_p.R104T|GPR161_uc001gfc.3_Missense_Mutation_p.R236T|GPR161_uc010pll.2_Missense_Mutation_p.R146T|GPR161_uc010plm.2_Missense_Mutation_p.R122T|GPR161_uc009wvo.3_Missense_Mutation_p.R253T|GPR161_uc001gfd.3_Missense_Mutation_p.R236T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T	p.R256T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			3	1301	-	all_hematologic(923;0.215)		236					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.767G>C	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949387	0.34377	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.82619	-0.19;-0.19;-1.63;-0.19;-1.17;-1.14;-0.1;-0.19	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.337449	0.38548	N	0.001654	T	0.68100	0.2964	L	0.55834	1.745	0.37955	D	0.932782	B;B;P;B;B;B	0.38504	0.178;0.183;0.634;0.009;0.152;0.081	B;B;B;B;B;B	0.35971	0.069;0.122;0.215;0.021;0.08;0.084	T	0.69165	-0.5217	9	0.26408	T	0.33	-10.2951	12.1459	0.54024	0.0:0.9204:0.0:0.0796	.	256;122;158;256;236;236	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	T	236;236;104;236;122;158;256;236	ENSP00000356812:R236T;ENSP00000271357:R236T;ENSP00000356810:R104T;ENSP00000356809:R236T;ENSP00000444348:R122T;ENSP00000437576:R158T;ENSP00000441039:R256T;ENSP00000355194:R236T	ENSP00000271357:R236T	R	-	2	0	GPR161	166332762	0.999000	0.42202	0.042000	0.18584	0.874000	0.50279	2.242000	0.43106	2.584000	0.87258	0.561000	0.74099	AGG		0.597	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
CR2	1380	broad.mit.edu	37	1	207644110	207644110	+	Silent	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:207644110C>A	ENST00000367058.3	+	7	1440	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	CR2_ENST00000458541.2_Silent_p.L417L|CR2_ENST00000367057.3_Silent_p.L417L|CR2_ENST00000367059.3_Silent_p.L417L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	417	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAACATCCTCAATGGGCAAA	0.418																																						uc001hfw.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(1249-1251)ctC>ctA		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.							86.0	84.0	85.0					1																	207644110		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207644110C>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1251C>A	1.37:g.207644110C>A						CR2_uc001hfv.3_Silent_p.L417L|CR2_uc009xch.3_Silent_p.L417L|CR2_uc009xci.1_5'Flank	p.L417L	NM_001877	NP_001868	P20023	CR2_HUMAN			6	1370	+			417			Sushi 7.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.1251C>A	CCDS1478.1																																																																																				0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
LYST	1130	broad.mit.edu	37	1	235866229	235866229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:235866229G>A	ENST00000389794.3	-	45	10366	c.10192C>T	c.(10192-10194)Cga>Tga	p.R3398*	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.R3398*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTAGCGCTCGTCTCTGAACT	0.453																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10192-10194)Cga>Tga		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							137.0	138.0	138.0					1																	235866229		2203	4300	6503	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866229G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10192C>T	1.37:g.235866229G>A	ENSP00000374444:p.Arg3398*					LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	p.R3398*	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		44	10367	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3398			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.10192C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	50	17.042780	0.99878	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.52	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5097	0.75769	0.0:0.0:0.6391:0.3609	.	.	.	.	X	3398	.	ENSP00000374443:R3398X	R	-	1	2	LYST	233932852	1.000000	0.71417	0.550000	0.28217	0.140000	0.21249	2.072000	0.41510	0.714000	0.32081	-2.067000	0.00394	CGA		0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
RYR2	6262	broad.mit.edu	37	1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237777418G>A	ENST00000366574.2	+	37	5307	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I	RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I|RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517																																						uc001hyl.1																			1	Substitution - Missense(1)	p.V1662L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4990-4992)Gtc>Atc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							65.0	66.0	65.0					1																	237777418		2026	4196	6222	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777418G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4990G>A	1.37:g.237777418G>A	ENSP00000355533:p.Val1664Ile						p.V1664I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5110	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1664			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4990G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931319	0.52866	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96940	-4.18;-4.15;-4.17	5.78	5.78	0.91487	.	0.095940	0.42420	D	0.000720	D	0.95720	0.8608	M	0.72118	2.19	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	D	0.92836	0.6284	10	0.62326	D	0.03	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1664	Q92736	RYR2_HUMAN	I	1664;1662;1648	ENSP00000355533:V1664I;ENSP00000353174:V1662I;ENSP00000443798:V1648I	ENSP00000353174:V1662I	V	+	1	0	RYR2	235844041	1.000000	0.71417	0.893000	0.35052	0.995000	0.86356	3.722000	0.54948	2.730000	0.93505	0.655000	0.94253	GTC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237995876	237995876	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237995876C>G	ENST00000366574.2	+	105	15150	c.14833C>G	c.(14833-14835)Caa>Gaa	p.Q4945E	RYR2_ENST00000360064.6_Missense_Mutation_p.Q4951E|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4929E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4945					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGATGTATCAAGAAAGGTG	0.383																																						uc001hyl.1																			0		p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14833-14835)Caa>Gaa		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							92.0	89.0	90.0					1																	237995876		1859	4126	5985	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237995876C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14833C>G	1.37:g.237995876C>G	ENSP00000355533:p.Gln4945Glu					RYR2_uc010pyb.1_3'UTR	p.Q4945E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		104	14953	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4945					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14833C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052213	0.55218	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.09;-4.11	5.16	5.16	0.70880	.	0.000000	0.56097	D	0.000029	D	0.96935	0.8999	L	0.44542	1.39	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	D	0.97008	0.9734	10	0.52906	T	0.07	-14.2271	18.8364	0.92164	0.0:1.0:0.0:0.0	.	4945	Q92736	RYR2_HUMAN	E	4945;4951;4929	ENSP00000355533:Q4945E;ENSP00000353174:Q4951E;ENSP00000443798:Q4929E	ENSP00000353174:Q4951E	Q	+	1	0	RYR2	236062499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.278000	0.78587	2.677000	0.91161	0.655000	0.94253	CAA		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
CUBN	8029	broad.mit.edu	37	10	17146591	17146591	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:17146591C>T	ENST00000377833.4	-	12	1309	c.1244G>A	c.(1243-1245)gGt>gAt	p.G415D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	415	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAAAATAACCAGAGACAGT	0.373																																						uc001ioo.3																			0		p.G415G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1243-1245)gGt>gAt		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						71.0	57.0	61.0					10																	17146591		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17146591C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1244G>A	10.37:g.17146591C>T	ENSP00000367064:p.Gly415Asp						p.G415D	NM_001081	NP_001072	O60494	CUBN_HUMAN			11	1296	-			415			EGF-like 6.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1244G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710194	0.89018	.	.	ENSG00000107611	ENST00000377833	D	0.91631	-2.88	5.45	5.45	0.79879	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.147332	0.31809	N	0.007031	D	0.94716	0.8295	L	0.52266	1.64	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.94974	0.8119	10	0.72032	D	0.01	.	19.2841	0.94063	0.0:1.0:0.0:0.0	.	415	O60494	CUBN_HUMAN	D	415	ENSP00000367064:G415D	ENSP00000367064:G415D	G	-	2	0	CUBN	17186597	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.741000	0.84997	2.575000	0.86900	0.655000	0.94253	GGT		0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
TMEM26	219623	broad.mit.edu	37	10	63170497	63170497	+	Missense_Mutation	SNP	G	G	T	rs201322680		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:63170497G>T	ENST00000399298.3	-	6	1058	c.690C>A	c.(688-690)aaC>aaA	p.N230K	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	230						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGCACACAACGTTCTGTACTG	0.473																																						uc001jlo.2																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(688-690)aaC>aaA		Homo sapiens transmembrane protein 26 (TMEM26), mRNA.							39.0	41.0	41.0					10																	63170497		2023	4184	6207	SO:0001583	missense	219623					integral to membrane		g.chr10:63170497G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.690C>A	10.37:g.63170497G>T	ENSP00000382237:p.Asn230Lys					TMEM26_uc001jlp.1_Non-coding_Transcript	p.N230K	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			5	1059	-	Prostate(12;0.0112)		230					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.690C>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	2.198	-0.383758	0.04966	.	.	ENSG00000196932	ENST00000399298	.	.	.	6.17	-7.85	0.01192	.	0.743369	0.13049	N	0.417897	T	0.10809	0.0264	N	0.05306	-0.075	0.27950	N	0.937166	B	0.24258	0.1	B	0.29785	0.107	T	0.29397	-1.0013	9	0.02654	T	1	-5.0638	5.4179	0.16384	0.3615:0.1006:0.436:0.102	.	230	Q6ZUK4	TMM26_HUMAN	K	230	.	ENSP00000382237:N230K	N	-	3	2	TMEM26	62840503	0.037000	0.19845	0.000000	0.03702	0.002000	0.02628	0.057000	0.14279	-1.626000	0.01552	-1.202000	0.01658	AAC		0.473	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505	
PTEN	5728	broad.mit.edu	37	10	89725042	89725042	+	Splice_Site	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:89725042A>G	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCTTTCTCTAGGTGAAGCTG	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		55	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(8)|Deletion - In frame(1)	p.0?(37)|p.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(13)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CS090868	PTEN	S		c.e9-2		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							42.0	39.0	40.0					10																	89725042		2203	4300	6503	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89725042A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1027-1A>G	10.37:g.89725042A>G		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.V343_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2059	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	343		V -> E (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.1027_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.749955	0.49257	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6156	0.76764	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89715022	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	8.915000	0.92740	2.142000	0.66516	0.477000	0.44152	.		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron
CHRNA10	57053	broad.mit.edu	37	11	3687643	3687643	+	Silent	SNP	G	G	A	rs555234421		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:3687643G>A	ENST00000250699.2	-	5	1118	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000364409.1_RNA|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	349					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	TTTCCCGCACGCACAGGCCCC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		17310	0.001		0.0	False		,,,				2504	0.0				Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1045-1047)tgC>tgT		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						55.0	57.0	56.0					11																	3687643		2201	4297	6498	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687643G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1047C>T	11.37:g.3687643G>A						CHRNA10_uc010qxt.2_Silent_p.C143C|CHRNA10_uc010qxu.2_Silent_p.C143C	p.C349C	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	1119	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	349						Silent	SNP	ENST00000250699.2	37	c.1047C>T	CCDS7745.1																																																																																				0.667	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2		
OR52I2	143502	broad.mit.edu	37	11	4608268	4608268	+	Missense_Mutation	SNP	G	G	A	rs138555035		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4608268G>A	ENST00000312614.4	+	1	248	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCATCATCGTGACTGCAAT	0.507																																						uc010qyh.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(226-228)Gtg>Atg		Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.		G	MET/VAL	0,4402		0,0,2201	247.0	222.0	231.0		226	-4.7	0.0	11	dbSNP_134	231	1,8589		0,1,4294	no	missense	OR52I2	NM_001005170.2	21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	76/351	4608268	1,12991	2201	4295	6496	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608268G>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.226G>A	11.37:g.4608268G>A	ENSP00000308764:p.Val76Met						p.V76M	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	248	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	76					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.226G>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	0.549	-0.850047	0.02651	0.0	1.16E-4	ENSG00000226288	ENST00000312614	T	0.01113	5.32	4.1	-4.66	0.03329	GPCR, rhodopsin-like superfamily (1);	1.081290	0.07159	N	0.850423	T	0.00580	0.0019	N	0.04245	-0.25	0.09310	N	1	P	0.35959	0.53	B	0.21708	0.036	T	0.50816	-0.8783	10	0.66056	D	0.02	-1.2646	7.4112	0.27019	0.3694:0.1857:0.445:0.0	.	76	Q8NH67	O52I2_HUMAN	M	76	ENSP00000308764:V76M	ENSP00000308764:V76M	V	+	1	0	OR52I2	4564844	0.000000	0.05858	0.005000	0.12908	0.033000	0.12548	-3.393000	0.00486	-0.415000	0.07484	-0.498000	0.04607	GTG		0.507	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170	
OR52I1	390037	broad.mit.edu	37	11	4615416	4615416	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4615416G>A	ENST00000530443.2	+	1	148	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	OR52I1_ENST00000450052.2_Missense_Mutation_p.V74M	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCTCATCGTGACTGCAAT	0.517																																						uc010qyi.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(148-150)Gtg>Atg		Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.							179.0	141.0	154.0					11																	4615416		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615416G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.148G>A	11.37:g.4615416G>A	ENSP00000436453:p.Val50Met						p.V50M	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	148	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	50					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.148G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	G	2.015	-0.426122	0.04701	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.01113	5.32;5.32	4.92	-9.84	0.00479	GPCR, rhodopsin-like superfamily (1);	1.081290	0.07159	N	0.850423	T	0.00695	0.0023	N	0.11000	0.08	0.21105	N	0.999784	B	0.19935	0.04	B	0.14023	0.01	T	0.50516	-0.8819	9	0.62326	D	0.03	-1.2646	7.3542	0.26709	0.3156:0.0892:0.5069:0.0883	.	50	Q8NGK6	O52I1_HUMAN	M	74;50	ENSP00000409094:V74M;ENSP00000436453:V50M	ENSP00000409094:V74M	V	+	1	0	OR52I1	4571992	0.000000	0.05858	0.000000	0.03702	0.192000	0.23643	-4.678000	0.00199	-2.412000	0.00570	-1.254000	0.01491	GTG		0.517	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169	
OR52H1	390067	broad.mit.edu	37	11	5566723	5566723	+	Missense_Mutation	SNP	T	T	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5566723T>G	ENST00000322653.4	-	1	56	c.31A>C	c.(31-33)Aac>Cac	p.N11H	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTCAGGTTGAAAATGATC	0.443																																						uc010qzh.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(31-33)Aac>Cac		Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.							93.0	90.0	91.0					11																	5566723		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566723T>G	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.31A>C	11.37:g.5566723T>G	ENSP00000326259:p.Asn11His					HBG1_uc001mak.1_Intron	p.N11H	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	31	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	11					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.31A>C	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642351	0.47153	.	.	ENSG00000181616	ENST00000322653	T	0.64618	-0.11	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	D	0.83843	0.5342	H	0.94698	3.57	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79376	-0.1829	10	0.87932	D	0	.	13.0276	0.58825	0.0:0.0:0.0:1.0	.	11	Q8NGJ2	O52H1_HUMAN	H	11	ENSP00000326259:N11H	ENSP00000326259:N11H	N	-	1	0	OR52H1	5523299	0.915000	0.31059	0.419000	0.26584	0.841000	0.47740	2.078000	0.41567	1.969000	0.57287	0.533000	0.62120	AAC		0.443	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289	
TRIM6	117854	broad.mit.edu	37	11	5626645	5626645	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5626645C>T	ENST00000278302.5	+	4	738	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	TRIM6_ENST00000515022.1_Missense_Mutation_p.R25W|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R228W|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.R25W|TRIM6_ENST00000380107.1_Missense_Mutation_p.R174W|TRIM6_ENST00000380097.3_Missense_Mutation_p.R228W|TRIM6_ENST00000507320.1_Missense_Mutation_p.R25W|TRIM6_ENST00000445329.1_Missense_Mutation_p.R25W	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	200					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTGGAGCAACGGGAGCTGAA	0.488											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(682-684)Cgg>Tgg		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.							91.0	94.0	93.0					11																	5626645		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5626645C>T	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.598C>T	11.37:g.5626645C>T	ENSP00000278302:p.Arg200Trp		OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	627	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R174W|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R200W|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R228W|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.R25W	p.R228W	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	3	945	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	228					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.682C>T	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379592	0.61845	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.30448	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;1.53	4.87	3.96	0.45880	.	.	.	.	.	T	0.57373	0.2049	M	0.86028	2.79	0.23150	N	0.998211	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.917;0.949;0.999;0.998	T	0.49031	-0.8981	9	0.87932	D	0	.	9.7352	0.40384	0.0:0.9015:0.0:0.0985	.	25;174;228;228;200	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	W	200;25;25;174;228;25;107;25;25;228;228	ENSP00000278302:R200W;ENSP00000414108:R25W;ENSP00000427704:R25W;ENSP00000369450:R174W;ENSP00000369440:R228W;ENSP00000399215:R25W;ENSP00000421802:R25W;ENSP00000421079:R25W;ENSP00000346916:R228W	ENSP00000278302:R200W	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5583221	0.022000	0.18835	0.986000	0.45419	0.775000	0.43874	0.218000	0.17622	1.380000	0.46344	0.655000	0.94253	CGG		0.488	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM6	117854	broad.mit.edu	37	11	5631406	5631406	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5631406G>A	ENST00000278302.5	+	6	945	c.805G>A	c.(805-807)Gct>Act	p.A269T	TRIM6_ENST00000515022.1_Missense_Mutation_p.A94T|TRIM6_ENST00000481603.1_3'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.A297T|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.A94T|TRIM6_ENST00000380107.1_Missense_Mutation_p.A243T|TRIM6_ENST00000380097.3_Missense_Mutation_p.A297T|TRIM6_ENST00000507320.1_Missense_Mutation_p.A94T|TRIM6_ENST00000445329.1_Missense_Mutation_p.A94T	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	269					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAAGCCAGAAGCTCTCCCTAC	0.517																																						uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(889-891)Gct>Act		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.							98.0	100.0	99.0					11																	5631406		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5631406G>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.805G>A	11.37:g.5631406G>A	ENSP00000278302:p.Ala269Thr					HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.A243T|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.A269T|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.A297T|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.A94T	p.A297T	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	5	1152	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	297					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.889G>A	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	G	4.045	0.006028	0.07866	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	5.09	0.689	0.18033	.	.	.	.	.	T	0.02649	0.0080	L	0.28608	0.87	0.09310	N	1	B;B;B;P;B	0.34724	0.22;0.007;0.028;0.465;0.22	B;B;B;B;B	0.28011	0.039;0.016;0.015;0.085;0.039	T	0.37361	-0.9709	9	0.05525	T	0.97	.	6.521	0.22275	0.4688:0.0:0.5312:0.0	.	94;243;297;297;269	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	T	269;94;94;243;297;94;176;94;94;297;297	ENSP00000278302:A269T;ENSP00000414108:A94T;ENSP00000427704:A94T;ENSP00000369450:A243T;ENSP00000369440:A297T;ENSP00000399215:A94T;ENSP00000421802:A94T;ENSP00000421079:A94T;ENSP00000346916:A297T	ENSP00000278302:A269T	A	+	1	0	TRIM34;TRIM6;TRIM6-TRIM34	5587982	0.619000	0.27059	0.040000	0.18447	0.986000	0.74619	0.431000	0.21444	0.243000	0.21327	0.563000	0.77884	GCT		0.517	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
MTNR1B	4544	broad.mit.edu	37	11	92714701	92714701	+	Silent	SNP	C	C	T	rs139515067		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:92714701C>T	ENST00000257068.2	+	2	318	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	104					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.D104D(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCTTCTATGACGGCTGGGCCC	0.567																																						uc001pdk.1																			2	Substitution - coding silent(2)	p.D104D(4)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(310-312)gaC>gaT		Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	Ramelteon(DB00980)	C		0,4402		0,0,2201	171.0	168.0	169.0		312	-7.9	0.0	11	dbSNP_134	169	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MTNR1B	NM_005959.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		104/363	92714701	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714701C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.312C>T	11.37:g.92714701C>T							p.D104D	NM_005959	NP_005950	P49286	MTR1B_HUMAN			1	415	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	104						Silent	SNP	ENST00000257068.2	37	c.312C>T	CCDS8290.1																																																																																				0.567	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
OR8A1	390275	broad.mit.edu	37	11	124440668	124440668	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:124440668C>A	ENST00000284287.3	+	1	776	c.704C>A	c.(703-705)aCc>aAc	p.T235N		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	235					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTTTCTTACACCTTCATTCTC	0.493																																						uc010san.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(703-705)aCc>aAc		Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.							114.0	109.0	111.0					11																	124440668		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440668C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.704C>A	11.37:g.124440668C>A	ENSP00000284287:p.Thr235Asn						p.T235N	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	0	704	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	235					Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.704C>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	4.333	0.061271	0.08339	.	.	ENSG00000196119	ENST00000284287	T	0.00158	8.65	5.03	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.486119	0.16754	N	0.200918	T	0.00241	0.0007	M	0.81112	2.525	0.09310	N	1	B	0.18166	0.026	B	0.33799	0.17	T	0.27806	-1.0063	10	0.59425	D	0.04	.	7.198	0.25864	0.0:0.5395:0.0:0.4605	.	235	Q8NGG7	OR8A1_HUMAN	N	235	ENSP00000284287:T235N	ENSP00000284287:T235N	T	+	2	0	OR8A1	123945878	0.000000	0.05858	0.910000	0.35882	0.166000	0.22503	-0.633000	0.05483	0.309000	0.22966	-0.143000	0.13931	ACC		0.493	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194	
DDX12P	440081	broad.mit.edu	37	12	9574020	9574020	+	IGR	SNP	T	T	C	rs200847155		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:9574020T>C								RP13-735L24.1 (23807 upstream) : SNORA75 (23633 downstream)														p.L672L(1)									ACGTGAATTCTAGCGGCTGGT	0.597																																						uc021qut.1																			1	Substitution - coding silent(1)	p.L672L(1)	endometrium(1)										Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.							53.0	57.0	55.0					12																	9574020		692	1591	2283	SO:0001628	intergenic_variant	440081							g.chr12:9574020T>C																													12.37:g.9574020T>C						DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank								10		-									Silent	SNP		37	c.1378A>G																																																																																				0	0.597								
PLEKHA5	54477	broad.mit.edu	37	12	19436597	19436597	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:19436597G>A	ENST00000299275.6	+	11	1685	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R452Q|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.R560Q|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R452Q|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.R318Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R566Q	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	560					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCCCTCAACGAACTTACAGA	0.468																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.3																			0		p.Q559K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1678-1680)cGa>cAa		Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.							68.0	68.0	68.0					12																	19436597		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436597G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1679G>A	12.37:g.19436597G>A	ENSP00000299275:p.Arg560Gln					PLEKHA5_uc010sie.2_Missense_Mutation_p.R566Q|PLEKHA5_uc001rea.3_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.3_Missense_Mutation_p.R318Q|PLEKHA5_uc010sig.2_Missense_Mutation_p.R452Q|PLEKHA5_uc010sih.1_Missense_Mutation_p.R452Q|PLEKHA5_uc021qvy.1_Missense_Mutation_p.R452Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q	p.R560Q	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			10	1787	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		560					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1679G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859203	0.71834	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	3.84	3.84	0.44239	.	0.136415	0.49916	D	0.000132	T	0.43233	0.1238	M	0.86740	2.835	0.43360	D	0.995431	P;D;D;D;D;D;D	0.89917	0.929;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D	0.91635	0.54;0.999;0.997;0.996;0.99;0.997;0.999	T	0.55673	-0.8104	10	0.72032	D	0.01	-7.7227	16.3276	0.82990	0.0:0.0:1.0:0.0	.	560;452;452;566;566;560;560	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	Q	560;560;560;567;560;566;560;318;560;452;452;452	ENSP00000325155:R560Q;ENSP00000347560:R560Q;ENSP00000352104:R560Q;ENSP00000311239:R560Q;ENSP00000404296:R566Q;ENSP00000299275:R560Q;ENSP00000440611:R318Q;ENSP00000439673:R560Q;ENSP00000400411:R452Q;ENSP00000439837:R452Q;ENSP00000440371:R452Q	ENSP00000299275:R560Q	R	+	2	0	PLEKHA5	19327864	1.000000	0.71417	0.673000	0.29887	0.356000	0.29392	6.775000	0.75018	2.132000	0.65825	0.655000	0.94253	CGA		0.468	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012	
ZFC3H1	196441	broad.mit.edu	37	12	72030416	72030416	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:72030416C>G	ENST00000378743.3	-	9	2312	c.1954G>C	c.(1954-1956)Gac>Cac	p.D652H	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	652					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGGTGGGTCACTATTACTG	0.363																																						uc001swo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1954-1956)Gac>Cac		Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.							159.0	146.0	150.0					12																	72030416		1891	4114	6005	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72030416C>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1954G>C	12.37:g.72030416C>G	ENSP00000368017:p.Asp652His						p.D652H	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			8	2313	-			652					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1954G>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621824	0.28889	.	.	ENSG00000133858	ENST00000378743	T	0.33216	1.42	5.16	5.16	0.70880	.	0.389674	0.23760	N	0.044830	T	0.15825	0.0381	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06991	-1.0796	10	0.38643	T	0.18	.	14.2757	0.66179	0.0:0.8512:0.1488:0.0	.	652	O60293	ZC3H1_HUMAN	H	652	ENSP00000368017:D652H	ENSP00000368017:D652H	D	-	1	0	ZFC3H1	70316683	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.038000	0.49783	2.400000	0.81607	0.467000	0.42956	GAC		0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
C12orf50	160419	broad.mit.edu	37	12	88388465	88388466	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:88388465_88388466delTA	ENST00000298699.2	-	7	716_717	c.536_537delTA	c.(535-537)atafs	p.I179fs	C12orf50_ENST00000550553.1_Frame_Shift_Del_p.I179fs	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	179										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGATGTTTTTATTTCACCTTG	0.347																																						uc001tam.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(535-537)atafs		Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.																																				SO:0001589	frameshift_variant	160419							g.chr12:88388465_88388466delTA	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.536_537delTA	12.37:g.88388465_88388466delTA	ENSP00000298699:p.Ile179fs					C12orf50_uc001tan.3_Frame_Shift_Del_p.I233fs	p.I179fs	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			6	704_705	-			179					Q6P674	Frame_Shift_Del	DEL	ENST00000298699.2	37	c.536_537delTA	CCDS9031.1																																																																																				0.347	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589	
CCDC60	160777	broad.mit.edu	37	12	119966451	119966451	+	Missense_Mutation	SNP	C	C	T	rs370439015		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:119966451C>T	ENST00000327554.2	+	12	1726	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	421										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAGAAGTTCCGTGCTTTTGT	0.428																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1261-1263)Cgt>Tgt		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.		C	CYS/ARG	0,4406		0,0,2203	193.0	181.0	185.0		1261	1.2	0.3	12		185	2,8598	2.2+/-6.3	0,2,4298	no	missense	CCDC60	NM_178499.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	421/551	119966451	2,13004	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119966451C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1261C>T	12.37:g.119966451C>T	ENSP00000333374:p.Arg421Cys					AF086288_uc001txf.3_Intron	p.R421C	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	11	1726	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		421						Missense_Mutation	SNP	ENST00000327554.2	37	c.1261C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	6.060	0.379443	0.11466	0.0	2.33E-4	ENSG00000183273	ENST00000327554	T	0.24151	1.87	5.42	1.17	0.20885	.	1.273790	0.05496	N	0.557592	T	0.17874	0.0429	N	0.19112	0.55	0.28033	N	0.934051	P	0.50443	0.935	P	0.44732	0.459	T	0.13899	-1.0492	9	.	.	.	-0.7477	3.7232	0.08465	0.3205:0.464:0.1329:0.0825	.	421	Q8IWA6	CCD60_HUMAN	C	421	ENSP00000333374:R421C	.	R	+	1	0	CCDC60	118450834	0.164000	0.22935	0.297000	0.24988	0.062000	0.15995	0.300000	0.19156	0.188000	0.20168	-0.194000	0.12790	CGT		0.428	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
GCN1L1	10985	broad.mit.edu	37	12	120599767	120599767	+	Silent	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:120599767A>T	ENST00000300648.6	-	21	2271	c.2259T>A	c.(2257-2259)ccT>ccA	p.P753P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	753					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGCAGTGCAGGGTTCTGCA	0.592																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(2257-2259)ccT>ccA		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							66.0	75.0	72.0					12																	120599767		2176	4271	6447	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120599767A>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2259T>A	12.37:g.120599767A>T							p.P753P	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			20	2272	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		753					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.2259T>A	CCDS41847.1																																																																																				0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
TUBA3C	7278	broad.mit.edu	37	13	19751200	19751200	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:19751200C>T	ENST00000400113.3	-	4	1027	c.923G>A	c.(922-924)cGc>cAc	p.R308H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	308					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTGCCGTGGCGAGGGTCACA	0.587																																						uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(922-924)cGc>cAc		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							170.0	145.0	153.0					13																	19751200		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751200C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.923G>A	13.37:g.19751200C>T	ENSP00000382982:p.Arg308His						p.R308H	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	1028	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	308					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.923G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	6.615	0.481871	0.12581	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.82893	-1.66	1.21	0.297	0.15762	.	0.000000	0.47852	U	0.000214	D	0.83050	0.5170	.	.	.	0.39964	D	0.974709	.	.	.	.	.	.	T	0.79928	-0.1596	7	0.87932	D	0	.	5.6914	0.17831	0.0:0.7927:0.0:0.2073	.	.	.	.	H	308	ENSP00000382982:R308H	ENSP00000354037:R308H	R	-	2	0	TUBA3C	18649200	1.000000	0.71417	0.838000	0.33150	0.482000	0.33219	4.655000	0.61476	0.076000	0.16826	0.184000	0.17185	CGC		0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
KLHL1	57626	broad.mit.edu	37	13	70681808	70681808	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:70681808G>T	ENST00000377844.4	-	1	783	c.24C>A	c.(22-24)gaC>gaA	p.D8E	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	8					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCACATCGAAGTCTTTTCGCC	0.632																																						uc001vip.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(22-24)gaC>gaA		Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.							21.0	23.0	22.0					13																	70681808		2202	4298	6500	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681808G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.24C>A	13.37:g.70681808G>T	ENSP00000367075:p.Asp8Glu					KLHL1_uc010thm.2_Missense_Mutation_p.D8E|ATXN8OS_uc010aej.1_Non-coding_Transcript	p.D8E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	0	818	-		Breast(118;0.000162)	8					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.24C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208707	0.39003	.	.	ENSG00000150361	ENST00000377844	T	0.65178	-0.14	5.28	3.52	0.40303	.	0.000000	0.56097	D	0.000038	T	0.39306	0.1073	N	0.17082	0.46	0.80722	D	1	B;B	0.17268	0.01;0.021	B;B	0.17098	0.017;0.008	T	0.24261	-1.0165	10	0.02654	T	1	.	10.7839	0.46395	0.1514:0.0:0.8486:0.0	.	8;8	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	E	8	ENSP00000367075:D8E	ENSP00000367075:D8E	D	-	3	2	KLHL1	69579809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.065000	0.30592	0.568000	0.29311	0.655000	0.94253	GAC		0.632	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
CLN5	1203	broad.mit.edu	37	13	77570066	77570066	+	Silent	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:77570066A>G	ENST00000377453.3	+	3	1808	c.516A>G	c.(514-516)agA>agG	p.R172R	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	123					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGATTCAGAAGTACATTAA	0.413																																						uc001vkc.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(514-516)agA>agG		Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.							171.0	143.0	153.0					13																	77570066		2203	4300	6503	SO:0001819	synonymous_variant	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570066A>G		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.516A>G	13.37:g.77570066A>G							p.R172R	NM_006493	NP_006484	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	2	544	+		Acute lymphoblastic leukemia(28;0.205)	123					B3KQK7	Silent	SNP	ENST00000377453.3	37	c.516A>G	CCDS9456.1																																																																																				0.413	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493	
SUPT16H	11198	broad.mit.edu	37	14	21822688	21822688	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:21822688A>G	ENST00000216297.2	-	23	3010	c.2672T>C	c.(2671-2673)cTg>cCg	p.L891P		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	891					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGTATTTCAGGTCGCAGGA	0.403																																						uc001wao.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2671-2673)cTg>cCg		Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.							104.0	89.0	94.0					14																	21822688		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21822688A>G	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2672T>C	14.37:g.21822688A>G	ENSP00000216297:p.Leu891Pro					SUPT16H_uc001wan.2_Missense_Mutation_p.L35P	p.L891P	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	3011	-	all_cancers(95;0.00115)		891					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2672T>C	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488216	0.84854	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.76	5.76	0.90799	Domain of unknown function DUF1747, eukaryote (1);	0.071032	0.53938	D	0.000043	T	0.65186	0.2667	L	0.47190	1.495	0.80722	D	1	P	0.46457	0.878	P	0.54210	0.745	T	0.68108	-0.5496	9	0.87932	D	0	-5.9741	15.1141	0.72388	1.0:0.0:0.0:0.0	.	891	Q9Y5B9	SP16H_HUMAN	P	891	.	ENSP00000216297:L891P	L	-	2	0	SUPT16H	20892528	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	8.314000	0.89980	2.212000	0.71576	0.524000	0.50904	CTG		0.403	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
SIPA1L1	26037	broad.mit.edu	37	14	72055814	72055814	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:72055814G>A	ENST00000555818.1	+	2	1573	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E409K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E409K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	409					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TAAAAGCAATGAGCTTGTAAT	0.458																																						uc001xms.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1225-1227)Gag>Aag		Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.							97.0	96.0	97.0					14																	72055814		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055814G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1225G>A	14.37:g.72055814G>A	ENSP00000450832:p.Glu409Lys					SIPA1L1_uc001xmt.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E409K	p.E409K	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	1	1586	+			409					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1225G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189003	0.57909	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.77229	-1.08;-1.08;-1.08	5.88	5.88	0.94601	.	0.195983	0.53938	D	0.000047	T	0.75568	0.3867	L	0.49126	1.545	0.80722	D	1	B;P;B	0.37824	0.003;0.609;0.083	B;B;B	0.35182	0.013;0.197;0.027	T	0.77453	-0.2582	10	0.72032	D	0.01	-20.1876	20.2187	0.98312	0.0:0.0:1.0:0.0	.	409;409;409	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	K	409	ENSP00000370630:E409K;ENSP00000450832:E409K;ENSP00000351352:E409K	ENSP00000351352:E409K	E	+	1	0	SIPA1L1	71125567	1.000000	0.71417	0.789000	0.31954	0.824000	0.46624	6.656000	0.74396	2.780000	0.95670	0.655000	0.94253	GAG		0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
VRTN	55237	broad.mit.edu	37	14	74823988	74823988	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:74823988A>G	ENST00000256362.4	+	2	743	c.502A>G	c.(502-504)Agc>Ggc	p.S168G		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	168					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGTTTCCCCAGCAGCTTCTC	0.597																																						uc021rwl.1																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(502-504)Agc>Ggc		Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.							113.0	107.0	109.0					14																	74823988		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823988A>G	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.502A>G	14.37:g.74823988A>G	ENSP00000256362:p.Ser168Gly					VRTN_uc001xpw.4_Missense_Mutation_p.S168G	p.S168G	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN			0	502	+			168					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.502A>G	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	0.855	-0.737251	0.03111	.	.	ENSG00000133980	ENST00000256362	T	0.43688	0.94	5.05	3.89	0.44902	.	0.482209	0.21560	N	0.072588	T	0.12689	0.0308	N	0.02539	-0.55	0.22858	N	0.998641	B	0.02656	0.0	B	0.04013	0.001	T	0.36939	-0.9727	10	0.02654	T	1	-0.2144	3.9664	0.09433	0.7938:0.0:0.2062:0.0	.	168	Q9H8Y1	VRTN_HUMAN	G	168	ENSP00000256362:S168G	ENSP00000256362:S168G	S	+	1	0	VRTN	73893741	1.000000	0.71417	0.218000	0.23776	0.044000	0.14063	6.777000	0.75028	2.123000	0.65237	0.459000	0.35465	AGC		0.597	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
CALM1	801	broad.mit.edu	37	14	90870850	90870850	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:90870850A>G	ENST00000356978.4	+	5	661	c.413A>G	c.(412-414)aAc>aGc	p.N138S	CALM1_ENST00000553542.1_Missense_Mutation_p.N102S|CALM1_ENST00000447653.3_Missense_Mutation_p.N139S|CALM1_ENST00000544280.2_Missense_Mutation_p.N102S|RP11-471B22.2_ENST00000555853.1_RNA	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	138	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GGACAAGTCAACTATGAAGGT	0.383																																						uc001xyl.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10						c.(412-414)aAc>aGc		Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						124.0	119.0	121.0					14																	90870850		2203	4300	6503	SO:0001583	missense	801				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr14:90870850A>G		CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.413A>G	14.37:g.90870850A>G	ENSP00000349467:p.Asn138Ser					CALM1_uc010atq.2_Missense_Mutation_p.N139S|CALM1_uc001xym.2_Missense_Mutation_p.N102S	p.N138S	NM_006888	NP_005175	P62158	CALM_HUMAN		COAD - Colon adenocarcinoma(157;0.208)	4	661	+		all_cancers(154;0.13)	138			EF-hand 4.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000356978.4	37	c.413A>G	CCDS9892.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630578	0.28978	.	.	ENSG00000198668	ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.45	5.45	0.79879	EF-hand-like domain (1);	0.048558	0.85682	N	0.000000	T	0.61640	0.2363	.	.	.	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.28991	0.035;0.097	T	0.61510	-0.7048	9	0.87932	D	0	.	15.5251	0.75898	1.0:0.0:0.0:0.0	.	139;138	E7ETZ0;P62158	.;CALM_HUMAN	S	138;139;102;102	ENSP00000349467:N138S;ENSP00000403491:N139S;ENSP00000450829:N102S;ENSP00000442853:N102S	ENSP00000349467:N138S	N	+	2	0	CALM1	89940603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.282000	0.95840	2.059000	0.61396	0.528000	0.53228	AAC		0.383	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1		
PPP4R4	57718	broad.mit.edu	37	14	94700063	94700063	+	Nonsense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94700063T>A	ENST00000304338.3	+	6	744	c.590T>A	c.(589-591)tTa>tAa	p.L197*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	197					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTAAAATTTTAGGAAAATTG	0.308																																						uc001ycs.1																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(589-591)tTa>tAa		Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.							80.0	81.0	80.0					14																	94700063		2202	4298	6500	SO:0001587	stop_gained	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94700063T>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.590T>A	14.37:g.94700063T>A	ENSP00000305924:p.Leu197*						p.L197*	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			5	744	+			197					Q9BUF8|Q9HCF0	Nonsense_Mutation	SNP	ENST00000304338.3	37	c.590T>A	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	T	31	5.072414	0.93950	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.52	5.52	0.82312	.	0.073698	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.849	15.6118	0.76727	0.0:0.0:0.0:1.0	.	.	.	.	X	197	.	ENSP00000305924:L197X	L	+	2	0	PPP4R4	93769816	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.036000	0.76524	2.085000	0.62840	0.383000	0.25322	TTA		0.308	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SERPINA11	256394	broad.mit.edu	37	14	94909543	94909543	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94909543G>A	ENST00000334708.3	-	4	1001	c.937C>T	c.(937-939)Cca>Tca	p.P313S	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	313					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAAAACCTTGGCAAGTGCAAA	0.458																																						uc001ydd.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(937-939)Cca>Tca		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.							75.0	74.0	74.0					14																	94909543		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94909543G>A	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.937C>T	14.37:g.94909543G>A	ENSP00000335024:p.Pro313Ser						p.P313S	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	997	-			313					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.937C>T	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099335	0.76983	.	.	ENSG00000186910	ENST00000334708	D	0.98777	-5.13	6.04	6.04	0.98038	Serpin domain (3);	0.000000	0.64402	D	0.000008	D	0.99471	0.9812	H	0.95574	3.69	0.48830	D	0.999717	D	0.71674	0.998	D	0.80764	0.994	D	0.98514	1.0620	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	313	Q86U17	SPA11_HUMAN	S	313	ENSP00000335024:P313S	ENSP00000335024:P313S	P	-	1	0	SERPINA11	93979296	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	7.380000	0.79704	2.873000	0.98535	0.563000	0.77884	CCA		0.458	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
JAG2	3714	broad.mit.edu	37	14	105612833	105612833	+	Silent	SNP	G	G	A	rs369469630		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105612833G>A	ENST00000331782.3	-	22	3001	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	JAG2_ENST00000347004.2_Silent_p.I828I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	866					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCCGAACCCGATCACTGTGG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		15712	0.001		0.0	False		,,,				2504	0.0					uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(2596-2598)atC>atT		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.		G	,	1,4399	2.1+/-5.4	0,1,2199	41.0	48.0	46.0		2598,2484	-6.4	0.0	14		46	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,3,6490	AA,AG,GG		0.0233,0.0227,0.0231	,	866/1239,828/1201	105612833	3,12983	2200	4293	6493	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105612833G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2598C>T	14.37:g.105612833G>A						JAG2_uc001yqf.3_Silent_p.I270I|JAG2_uc001yqh.3_Silent_p.I828I	p.I866I	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	21	3002	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	866					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.2598C>T	CCDS9998.1																																																																																				0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
JAG2	3714	broad.mit.edu	37	14	105618019	105618019	+	Missense_Mutation	SNP	G	G	A	rs140813175		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105618019G>A	ENST00000331782.3	-	8	1500	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.P366L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	366	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAAGCCGGACGGCACCTCATG	0.667																																						uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1096-1098)cCg>cTg		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.			LEU/PRO,LEU/PRO	2,4396	4.2+/-10.8	0,2,2197	31.0	29.0	29.0		1097,1097	1.2	0.6	14	dbSNP_134	29	0,8600		0,0,4300	no	missense,missense	JAG2	NM_002226.3,NM_145159.1	98,98	0,2,6497	AA,AG,GG		0.0,0.0455,0.0154	benign,benign	366/1239,366/1201	105618019	2,12996	2199	4300	6499	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105618019G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1097C>T	14.37:g.105618019G>A	ENSP00000328169:p.Pro366Leu					JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Missense_Mutation_p.P366L	p.P366L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	7	1501	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	366			EGF-like 4.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1097C>T	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	4.200	0.035891	0.08148	4.55E-4	0.0	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.91407	-2.84;-2.22	3.17	1.16	0.20824	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.296897	0.32444	N	0.006081	T	0.77711	0.4171	N	0.17312	0.475	0.21184	N	0.999761	B;B	0.12630	0.001;0.006	B;B	0.12156	0.006;0.007	T	0.59558	-0.7432	10	0.09590	T	0.72	.	7.5364	0.27712	0.2448:0.0:0.7552:0.0	.	366;366	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	L	366	ENSP00000328169:P366L;ENSP00000328566:P366L	ENSP00000328169:P366L	P	-	2	0	JAG2	104689064	0.121000	0.22262	0.600000	0.28864	0.235000	0.25334	2.103000	0.41806	0.270000	0.21984	0.176000	0.17051	CCG		0.667	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
SLC27A2	11001	broad.mit.edu	37	15	50494831	50494831	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:50494831G>A	ENST00000267842.5	+	3	1068	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	SLC27A2_ENST00000544960.1_Missense_Mutation_p.C44Y|SLC27A2_ENST00000380902.4_Intron	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	279					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATTCACGGATGTATTGTGGCT	0.428																																						uc001zxw.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(835-837)tGt>tAt		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.							191.0	163.0	173.0					15																	50494831		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50494831G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.836G>A	15.37:g.50494831G>A	ENSP00000267842:p.Cys279Tyr					SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.C44Y	p.C279Y	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	2	1068	+		all_lung(180;0.00177)	279					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.836G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478743	0.44044	.	.	ENSG00000140284	ENST00000267842;ENST00000544960	T;T	0.40756	1.02;1.02	5.64	5.64	0.86602	AMP-dependent synthetase/ligase (1);	0.138477	0.64402	D	0.000003	T	0.72645	0.3486	M	0.93062	3.375	0.48236	D	0.999618	D	0.59357	0.985	D	0.68943	0.961	T	0.79458	-0.1795	10	0.87932	D	0	.	17.2064	0.86920	0.0:0.0:1.0:0.0	.	279	O14975	S27A2_HUMAN	Y	279;44	ENSP00000267842:C279Y;ENSP00000444549:C44Y	ENSP00000267842:C279Y	C	+	2	0	SLC27A2	48282123	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	4.108000	0.57817	2.664000	0.90586	0.650000	0.86243	TGT		0.428	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	
BLM	641	broad.mit.edu	37	15	91312761	91312761	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:91312761A>T	ENST00000355112.3	+	12	2618	c.2500A>T	c.(2500-2502)Aat>Tat	p.N834Y	BLM_ENST00000560509.1_Missense_Mutation_p.N834Y|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	834	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGCCACAGCTAATCCCAGGGT	0.478			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2500-2502)Aat>Tat	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.							80.0	68.0	72.0					15																	91312761		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91312761A>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2500A>T	15.37:g.91312761A>T	ENSP00000347232:p.Asn834Tyr					BLM_uc010uqh.2_Missense_Mutation_p.N834Y|BLM_uc010uqi.2_Missense_Mutation_p.N459Y|BLM_uc010bnx.3_Missense_Mutation_p.N834Y	p.N834Y	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		11	2597	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		834			Helicase ATP-binding.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2500A>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384905	0.82792	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.15487	2.42	4.86	4.86	0.63082	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.047933	0.85682	D	0.000000	T	0.40423	0.1116	M	0.76574	2.34	0.58432	D	0.999995	D;D;D	0.71674	0.998;0.994;0.998	D;D;D	0.71656	0.974;0.968;0.974	T	0.34502	-0.9826	10	0.87932	D	0	-11.0063	12.7006	0.57029	1.0:0.0:0.0:0.0	.	834;459;834	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Y	834;487;21	ENSP00000347232:N834Y	ENSP00000347232:N834Y	N	+	1	0	BLM	89113765	1.000000	0.71417	0.982000	0.44146	0.913000	0.54294	9.002000	0.93572	1.943000	0.56356	0.482000	0.46254	AAT		0.478	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		
CDH16	1014	broad.mit.edu	37	16	66950022	66950022	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:66950022G>T	ENST00000299752.4	-	5	563	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	CDH16_ENST00000565796.1_Missense_Mutation_p.P124T|CDH16_ENST00000394055.3_Missense_Mutation_p.P124T|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000570262.1_Missense_Mutation_p.P44T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAGAAATGGGGCACCTGGTCA	0.582																																						uc002eql.3																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(370-372)Ccc>Acc		Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.							107.0	91.0	97.0					16																	66950022		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66950022G>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.370C>A	16.37:g.66950022G>T	ENSP00000299752:p.Pro124Thr					CDH16_uc010cdy.3_Missense_Mutation_p.P124T|CDH16_uc021tjx.1_Missense_Mutation_p.P124T|CDH16_uc002eqm.3_Intron	p.P124T	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	4	564	-		Ovarian(137;0.0563)	124			Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.370C>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919872	0.33908	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.72394	-0.65;-0.65	4.89	4.89	0.63831	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	H	0.97635	4.045	0.54753	D	0.99998	D;D	0.69078	0.997;0.996	D;P	0.65323	0.934;0.896	D	0.91812	0.5460	10	0.87932	D	0	-19.9027	13.4138	0.60958	0.0:0.0:1.0:0.0	.	124;124	O75309-2;O75309	.;CAD16_HUMAN	T	124;124;88	ENSP00000377619:P124T;ENSP00000299752:P124T	ENSP00000299752:P124T	P	-	1	0	CDH16	65507523	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.101000	0.57769	2.552000	0.86080	0.543000	0.68304	CCC		0.582	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
PHLPP2	23035	broad.mit.edu	37	16	71724459	71724459	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:71724459G>C	ENST00000568954.1	-	4	950	c.572C>G	c.(571-573)aCt>aGt	p.T191S	PHLPP2_ENST00000393524.2_Missense_Mutation_p.T191S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T191S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T191S|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T226S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	191	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATCTTTCCAGTTTGACAATC	0.408																																						uc002fax.3																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(571-573)aCt>aGt		Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.							115.0	99.0	104.0					16																	71724459		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71724459G>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.572C>G	16.37:g.71724459G>C	ENSP00000457991:p.Thr191Ser					PHLPP2_uc010cgf.3_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S|TRNA_Gln_uc021tkw.1_5'Flank	p.T191S	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			2	578	-			191			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.572C>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259508	0.59321	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.28255	1.62;1.62;1.62	5.11	5.11	0.69529	Pleckstrin homology-type (1);	0.048160	0.85682	D	0.000000	T	0.30885	0.0779	L	0.36672	1.1	0.38145	D	0.93855	P;B	0.38729	0.644;0.451	B;B	0.40636	0.335;0.137	T	0.15838	-1.0423	10	0.42905	T	0.14	-13.9059	17.5185	0.87781	0.0:0.0:1.0:0.0	.	191;191	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	S	191	ENSP00000353610:T191S;ENSP00000348611:T191S;ENSP00000377159:T191S	ENSP00000348611:T191S	T	-	2	0	PHLPP2	70281960	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.551000	0.67274	2.403000	0.81681	0.655000	0.94253	ACT		0.408	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020	
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					uc002fqq.3																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)								c.(502-504)acG>acA		Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																																						197331							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						BC139719_uc002fqp.3_Silent_p.T151T	p.T168T							3	504	+									Silent	SNP	ENST00000564451.1	37	c.504G>A																																																																																					0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334	
MYH3	4621	broad.mit.edu	37	17	10533648	10533648	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:10533648G>A	ENST00000583535.1	-	37	5501	c.5414C>T	c.(5413-5415)gCg>gTg	p.A1805V	MYH3_ENST00000226209.7_Missense_Mutation_p.A1805V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1805					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCCCTTCAGCGCCAGCTGCTC	0.607																																						uc002gmq.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(5413-5415)gCg>gTg		Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.							118.0	114.0	115.0					17																	10533648		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10533648G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5414C>T	17.37:g.10533648G>A	ENSP00000464317:p.Ala1805Val						p.A1805V	NM_002470	NP_002461	P11055	MYH3_HUMAN			36	5502	-			1805					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.5414C>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208728	0.95069	.	.	ENSG00000109063	ENST00000226209	T	0.80824	-1.42	4.56	4.56	0.56223	Myosin tail (1);	.	.	.	.	D	0.89694	0.6789	M	0.81614	2.55	0.51767	D	0.999932	D	0.69078	0.997	D	0.68353	0.957	D	0.91303	0.5068	9	0.87932	D	0	.	17.8754	0.88824	0.0:0.0:1.0:0.0	.	1805	P11055	MYH3_HUMAN	V	1805	ENSP00000226209:A1805V	ENSP00000226209:A1805V	A	-	2	0	MYH3	10474373	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.652000	0.98499	2.509000	0.84616	0.655000	0.94253	GCG		0.607	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	uc002gpx.3																			1	Substitution - coding silent(1)	p.P189P(2)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(565-567)ccC>ccT		Homo sapiens ubiquitin B (UBB), mRNA.							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_uc010vwe.1_Silent_p.P113P|UBB_uc021tqs.1_Silent_p.P189P	p.P189P	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	1	705	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955	
ANKRD13B	124930	broad.mit.edu	37	17	27939203	27939203	+	Silent	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:27939203T>A	ENST00000394859.3	+	11	1324	c.1170T>A	c.(1168-1170)atT>atA	p.I390I	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	390						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCCCATCATTGACCTCATGG	0.597																																						uc002hei.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1168-1170)atT>atA		Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.							126.0	115.0	119.0					17																	27939203		2203	4300	6503	SO:0001819	synonymous_variant	124930							g.chr17:27939203T>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1170T>A	17.37:g.27939203T>A						ANKRD13B_uc002heh.3_Silent_p.I258I|ANKRD13B_uc002hej.3_Non-coding_Transcript	p.I390I	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			10	1283	+			390					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.1170T>A	CCDS11251.1																																																																																				0.597	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345	
MEP1B	4225	broad.mit.edu	37	18	29787380	29787380	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:29787380G>A	ENST00000269202.6	+	8	760	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MEP1B_ENST00000581447.1_Missense_Mutation_p.R238Q	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	238	Metalloprotease.	Mediates preference for acidic residues at subsite P1'.			digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCGGCCAACGAATGGATTTC	0.388																																						uc002kxj.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(712-714)cGa>cAa		Homo sapiens meprin A, beta (MEP1B), mRNA.							58.0	54.0	55.0					18																	29787380		1915	4126	6041	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29787380G>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.713G>A	18.37:g.29787380G>A	ENSP00000269202:p.Arg238Gln						p.R238Q	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			7	760	+			238			Metalloprotease.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.713G>A	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	36	5.697078	0.96802	.	.	ENSG00000141434	ENST00000269202	T	0.68025	-0.3	5.75	5.75	0.90469	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87947	0.2721	10	0.72032	D	0.01	-14.7186	19.9319	0.97122	0.0:0.0:1.0:0.0	.	238	Q16820	MEP1B_HUMAN	Q	238	ENSP00000269202:R238Q	ENSP00000269202:R238Q	R	+	2	0	MEP1B	28041378	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.869000	0.99810	2.728000	0.93425	0.591000	0.81541	CGA		0.388	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
CBLN2	147381	broad.mit.edu	37	18	70209243	70209243	+	Silent	SNP	C	C	T	rs199997483	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:70209243C>T	ENST00000269503.4	-	3	926	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000585159.1_Silent_p.A51A|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	51					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGTCGTTCTGCGCCCGCACGG	0.741																																						uc002lku.2																			0				endometrium(2)|lung(15)	17						c.(151-153)gcG>gcA		Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.							22.0	22.0	22.0					18																	70209243		2200	4297	6497	SO:0001819	synonymous_variant	147381					integral to membrane		g.chr18:70209243C>T	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.153G>A	18.37:g.70209243C>T						CBLN2_uc002lkv.2_Silent_p.A51A	p.A51A	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			1	388	-		Esophageal squamous(42;0.131)	51					Q53Z56	Silent	SNP	ENST00000269503.4	37	c.153G>A	CCDS11999.1																																																																																				0.741	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511	
MISP	126353	broad.mit.edu	37	19	758162	758162	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:758162C>T	ENST00000215582.6	+	2	1319	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	406					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCCAGATGCCCGTGCGGCCGA	0.682																																						uc002lpo.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1216-1218)Cgt>Tgt		Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.							17.0	16.0	16.0					19																	758162		2188	4281	6469	SO:0001583	missense	126353							g.chr19:758162C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1216C>T	19.37:g.758162C>T	ENSP00000215582:p.Arg406Cys						p.R406C	NM_173481	NP_775752	Q8IVT2	CS021_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1299	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	406						Missense_Mutation	SNP	ENST00000215582.6	37	c.1216C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250548	0.59212	.	.	ENSG00000099812	ENST00000215582	T	0.33654	1.4	3.94	-1.46	0.08800	.	0.648698	0.13072	N	0.415991	T	0.38612	0.1047	L	0.45581	1.43	0.09310	N	0.99999	D	0.76494	0.999	P	0.54924	0.764	T	0.29366	-1.0014	10	0.42905	T	0.14	-1.6344	8.0374	0.30502	0.3862:0.4735:0.1404:0.0	.	406	Q8IVT2	CS021_HUMAN	C	406	ENSP00000215582:R406C	ENSP00000215582:R406C	R	+	1	0	C19orf21	709162	0.000000	0.05858	0.004000	0.12327	0.311000	0.27955	-0.032000	0.12266	-0.405000	0.07599	0.491000	0.48974	CGT		0.682	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481	
GADD45B	4616	broad.mit.edu	37	19	2477591	2477591	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:2477591G>C	ENST00000215631.4	+	4	707	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	159					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTTCAGGAACGCTGAGG	0.562																																						uc002lwb.2																			0				cervix(2)|lung(1)|ovary(1)	4						c.(475-477)Gaa>Caa		Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA.							37.0	39.0	38.0					19																	2477591		2202	4300	6502	SO:0001583	missense	4616				activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress			g.chr19:2477591G>C	AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"""myeloid differentiation primary response"", ""growth arrest and DNA-damage-inducible beta"""	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.475G>C	19.37:g.2477591G>C	ENSP00000215631:p.Glu159Gln						p.E159Q	NM_015675	NP_056490	O75293	GA45B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	709	+		Hepatocellular(1079;0.137)	159					A8KAM2|O75960|Q17R46	Missense_Mutation	SNP	ENST00000215631.4	37	c.475G>C	CCDS32868.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950326	0.53186	.	.	ENSG00000099860	ENST00000215631	T	0.53640	0.61	4.66	3.62	0.41486	.	0.168676	0.51477	D	0.000100	T	0.48537	0.1505	M	0.74467	2.265	0.80722	D	1	P	0.35656	0.514	B	0.36845	0.234	T	0.53472	-0.8434	10	0.87932	D	0	.	10.6673	0.45739	0.0958:0.0:0.9042:0.0	.	159	O75293	GA45B_HUMAN	Q	159	ENSP00000215631:E159Q	ENSP00000215631:E159Q	E	+	1	0	GADD45B	2428591	1.000000	0.71417	0.262000	0.24481	0.755000	0.42902	9.118000	0.94355	0.945000	0.37605	0.542000	0.68232	GAA		0.562	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451337.1	NM_015675	
CPAMD8	27151	broad.mit.edu	37	19	17086956	17086956	+	Silent	SNP	T	T	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17086956T>C	ENST00000443236.1	-	16	1936	c.1905A>G	c.(1903-1905)tcA>tcG	p.S635S	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	588						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AATACGTCACTGAAACCTTGG	0.557																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1903-1905)tcA>tcG		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							40.0	42.0	41.0					19																	17086956		2049	4208	6257	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17086956T>C	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1905A>G	19.37:g.17086956T>C							p.S635S	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			15	1937	-			588					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.1905A>G	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	T	2.209	-0.381214	0.05000	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.89	1.83	0.25207	.	.	.	.	.	T	0.41236	0.1150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35822	-0.9773	4	.	.	.	.	0.5616	0.00680	0.1763:0.2006:0.1804:0.4426	.	.	.	.	R	646	.	.	Q	-	2	0	CPAMD8	16947956	0.807000	0.29009	0.961000	0.40146	0.235000	0.25334	-0.409000	0.07160	1.113000	0.41760	0.459000	0.35465	CAG		0.557	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
B3GNT3	10331	broad.mit.edu	37	19	17918748	17918748	+	Silent	SNP	C	C	T	rs79614823	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17918748C>T	ENST00000318683.6	+	2	279	c.132C>T	c.(130-132)ccC>ccT	p.P44P	B3GNT3_ENST00000595387.1_Silent_p.P44P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	44					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGGCGATCCCCGAGGCCCTGG	0.687													C|||	33	0.00658946	0.0242	0.0014	5008	,	,		9994	0.0		0.0	False		,,,				2504	0.0					uc002nhl.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(130-132)ccC>ccT		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.		C		88,4314		0,88,2113	20.0	21.0	21.0		132	1.4	0.0	19	dbSNP_131	21	3,8575		0,3,4286	no	coding-synonymous	B3GNT3	NM_014256.3		0,91,6399	TT,TC,CC		0.035,1.9991,0.7011		44/373	17918748	91,12889	2201	4289	6490	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918748C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.132C>T	19.37:g.17918748C>T						B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P	p.P44P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			1	279	+			44					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.132C>T	CCDS12364.1																																																																																				0.687	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256	
ZNF493	284443	broad.mit.edu	37	19	21606457	21606457	+	Silent	SNP	T	T	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:21606457T>C	ENST00000355504.4	+	2	878	c.612T>C	c.(610-612)atT>atC	p.I204I	ZNF493_ENST00000392288.2_Silent_p.I332I|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	204					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(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTTAGTATTTTCTCAACCC	0.348																																						uc002npw.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(994-996)atT>atC		Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.							35.0	39.0	38.0					19																	21606457		2199	4296	6495	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606457T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.612T>C	19.37:g.21606457T>C						ZNF493_uc002npx.3_Silent_p.I204I|ZNF493_uc002npy.3_Silent_p.I204I|ZNF493_uc021urq.1_Silent_p.I204I	p.I332I	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN			3	1115	+			204					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.996T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2488-2490)gaA>gaG		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							66.0	72.0	70.0					19																	22155346		2117	4255	6372	SO:0001819	synonymous_variant	7757							g.chr19:22155346T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2490A>G	19.37:g.22155346T>C						ZNF208_uc002nqo.1_Intron	p.E830E	NM_007153	NP_009084					3	2639	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2490A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
LSR	51599	broad.mit.edu	37	19	35757850	35757850	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:35757850C>T	ENST00000361790.3	+	8	1427	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000354900.3_Missense_Mutation_p.P404L|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000360798.3_Missense_Mutation_p.P355L|LSR_ENST00000427250.1_Missense_Mutation_p.P267L|LSR_ENST00000602122.1_Missense_Mutation_p.P403L|LSR_ENST00000347609.4_Missense_Mutation_p.P365L|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000222305.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	423					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622																																						uc002nyl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(1267-1269)cCc>cTc		Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.							27.0	31.0	29.0					19																	35757850		2202	4300	6502	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757850C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1268C>T	19.37:g.35757850C>T	ENSP00000354575:p.Pro423Leu					LSR_uc010xsr.2_Missense_Mutation_p.P315L|LSR_uc002nym.3_Missense_Mutation_p.P404L|LSR_uc002nyn.3_Missense_Mutation_p.P355L|LSR_uc002nyo.3_Missense_Mutation_p.P403L|LSR_uc002nyp.3_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	p.P423L	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1491	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		423					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.1268C>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980669	0.34942	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.63096	0.52;0.68;0.36;0.33;-0.02	4.39	4.39	0.52855	.	0.887861	0.09961	N	0.733409	T	0.52757	0.1754	L	0.44542	1.39	0.39698	D	0.97114	B;B;B;B;P;D	0.53619	0.335;0.16;0.02;0.302;0.651;0.961	B;B;B;B;B;P	0.44597	0.058;0.059;0.059;0.376;0.084;0.454	T	0.47935	-0.9078	10	0.07644	T	0.81	-11.48	9.6783	0.40054	0.2074:0.7926:0.0:0.0	.	361;365;403;355;404;423	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	L	423;404;355;365;267	ENSP00000354575:P423L;ENSP00000346976:P404L;ENSP00000354034:P355L;ENSP00000262627:P365L;ENSP00000394479:P267L	ENSP00000262627:P365L	P	+	2	0	LSR	40449690	0.030000	0.19436	0.195000	0.23364	0.837000	0.47467	0.423000	0.21313	2.249000	0.74217	0.561000	0.74099	CCC		0.622	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	
CEACAM18	729767	broad.mit.edu	37	19	51986389	51986389	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:51986389G>A	ENST00000396477.4	+	4	813	c.792G>A	c.(790-792)aaG>aaA	p.K264K	CEACAM18_ENST00000451626.1_Silent_p.K325K	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	264	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGATCTCAAGTACCACTGGA	0.512																																						uc002pwv.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(973-975)aaG>aaA		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.							182.0	179.0	180.0					19																	51986389		2025	4192	6217	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51986389G>A			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.792G>A	19.37:g.51986389G>A							p.K325K	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	975	+		all_neural(266;0.0529)	325			Ig-like C2-type.		C9JN24	Silent	SNP	ENST00000396477.4	37	c.975G>A																																																																																					0.512	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	T	A	rs112113280	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:52942423T>A	ENST00000332323.6	+	4	1810	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.N570K	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	583					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)	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438													T|||	4	0.000798722	0.0	0.0	5008	,	,		21602	0.0		0.004	False		,,,				2504	0.0					uc002pzk.3																			2	Substitution - Missense(2)	p.N583K(2)	prostate(1)|kidney(1)	central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1747-1749)aaT>aaA		Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.							71.0	68.0	69.0					19																	52942423		692	1591	2283	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942423T>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1749T>A	19.37:g.52942423T>A	ENSP00000327538:p.Asn583Lys					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.N570K	p.N583K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			3	1816	+			583					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.1749T>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	T	7.949	0.744393	0.15710	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.12569	2.67;2.67	1.73	-3.46	0.04767	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.00507	-1.42	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.001;0.004	T	0.36939	-0.9727	9	0.42905	T	0.14	.	2.4785	0.04581	0.3558:0.0:0.2693:0.3748	.	570;583	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	K	583;570;582	ENSP00000327538:N583K;ENSP00000391358:N570K	ENSP00000327538:N583K	N	+	3	2	ZNF534	57634235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.588000	0.00422	-1.795000	0.01255	-0.898000	0.02899	AAT		0.438	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
ZNF845	91664	broad.mit.edu	37	19	53855879	53855879	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:53855879C>G	ENST00000595091.1	+	5	2170	c.1951C>G	c.(1951-1953)Caa>Gaa	p.Q651E	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q651E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q651E(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAACCTTCAAAGACATAG	0.398																																						uc010ydv.1																			1	Substitution - Missense(1)	p.Q651E(2)	lung(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1951-1953)Caa>Gaa		Homo sapiens zinc finger protein 845 (ZNF845), mRNA.							19.0	18.0	19.0					19																	53855879		692	1589	2281	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855879C>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1951C>G	19.37:g.53855879C>G	ENSP00000470005:p.Gln651Glu					ZNF845_uc010ydw.1_Missense_Mutation_p.Q651E	p.Q651E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			3	2068	+			651						Missense_Mutation	SNP	ENST00000595091.1	37	c.1951C>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.712761	0.00712	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.11821	2.74	1.98	-3.95	0.04118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	N	0.12443	0.215	0.09310	N	1	B	0.23058	0.079	B	0.12837	0.008	T	0.22312	-1.0220	9	0.28530	T	0.3	.	0.8451	0.01159	0.3331:0.2896:0.1039:0.2734	.	651	Q96IR2	ZN845_HUMAN	E	651	ENSP00000388311:Q651E	ENSP00000412086:Q651E	Q	+	1	0	ZNF845	58547691	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.704000	0.00196	-3.257000	0.00203	-0.683000	0.03753	CAA		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
ZSCAN5B	342933	broad.mit.edu	37	19	56704064	56704064	+	Nonsense_Mutation	SNP	G	G	A	rs555339343		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:56704064G>A	ENST00000586855.2	-	2	671	c.358C>T	c.(358-360)Cga>Tga	p.R120*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.R120*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	120	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGTTATTTCGTAGCAGGTCC	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19191	0.0		0.0	False		,,,				2504	0.0					uc010ygh.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(358-360)Cga>Tga		Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.							52.0	57.0	56.0					19																	56704064		2202	4297	6499	SO:0001587	stop_gained	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704064G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.358C>T	19.37:g.56704064G>A	ENSP00000466072:p.Arg120*						p.R120*	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			0	358	-			120			SCAN box.			Nonsense_Mutation	SNP	ENST00000586855.2	37	c.358C>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413615	0.42817	.	.	ENSG00000197213	ENST00000358992	.	.	.	2.48	-4.22	0.03800	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5298	0.16978	0.1744:0.0:0.5776:0.248	.	.	.	.	X	120	.	ENSP00000351883:R120X	R	-	1	2	ZSCAN5B	61395876	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.228000	0.17814	-1.035000	0.03291	0.313000	0.20887	CGA		0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456	
GRHL1	29841	broad.mit.edu	37	2	10102621	10102621	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:10102621G>A	ENST00000324907.9	+	5	843	c.707G>A	c.(706-708)gGc>gAc	p.G236D	GRHL1_ENST00000405379.2_Missense_Mutation_p.G236D|GRHL1_ENST00000324883.5_Intron	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	236					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGGATGCCTGGCATGAATTCA	0.358																																						uc002raa.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(706-708)gGc>gAc		Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.							173.0	159.0	163.0					2																	10102621		1875	4108	5983	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10102621G>A	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.707G>A	2.37:g.10102621G>A	ENSP00000324693:p.Gly236Asp					GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Intron|GRHL1_uc010yjb.2_Missense_Mutation_p.G85D	p.G236D	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	878	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		236					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.707G>A	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879277	0.33162	.	.	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.11495	2.77;2.77	5.51	5.51	0.81932	.	0.372434	0.33591	N	0.004745	T	0.05914	0.0154	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.41945	-0.9480	10	0.27785	T	0.31	.	10.5383	0.45018	0.1173:0.0:0.8827:0.0	.	236	Q9NZI5	GRHL1_HUMAN	D	236	ENSP00000384209:G236D;ENSP00000324693:G236D	ENSP00000324693:G236D	G	+	2	0	GRHL1	10020072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.466000	0.53071	2.606000	0.88127	0.650000	0.86243	GGC		0.358	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552	
CCDC85A	114800	broad.mit.edu	37	2	56420095	56420095	+	Missense_Mutation	SNP	G	G	A	rs554353955		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:56420095G>A	ENST00000407595.2	+	2	1262	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	254	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCACAGGAGCGCCAGCCCCGA	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14054	0.0		0.0	False		,,,				2504	0.001					uc002rzn.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(760-762)Gcc>Acc		Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.							28.0	43.0	38.0					2																	56420095		2040	4206	6246	SO:0001583	missense	114800							g.chr2:56420095G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.760G>A	2.37:g.56420095G>A	ENSP00000384040:p.Ala254Thr					CCDC85A_uc021vhw.1_Intron	p.A254T	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	1262	+			254			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.760G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	2.657	-0.280741	0.05642	.	.	ENSG00000055813	ENST00000407595	T	0.43294	0.95	5.08	-6.53	0.01866	.	0.803078	0.11585	N	0.549393	T	0.12305	0.0299	N	0.03608	-0.345	0.22266	N	0.99924	B	0.11235	0.004	B	0.04013	0.001	T	0.26189	-1.0110	10	0.12766	T	0.61	-19.1476	3.9313	0.09286	0.5173:0.0989:0.2845:0.0993	.	254	Q96PX6	CC85A_HUMAN	T	254	ENSP00000384040:A254T	ENSP00000384040:A254T	A	+	1	0	CCDC85A	56273599	0.006000	0.16342	0.853000	0.33588	0.956000	0.61745	0.194000	0.17135	-1.251000	0.02494	-0.218000	0.12543	GCC		0.657	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1		
SULT1C3	442038	broad.mit.edu	37	2	108872031	108872031	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:108872031G>T	ENST00000329106.2	+	4	403	c.403G>T	c.(403-405)Gtc>Ttc	p.V135F	SULT1C3_ENST00000376700.1_Missense_Mutation_p.V135F	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	135					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTTCAGATTGTCTATGTGGC	0.413																																						uc010ywo.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(403-405)Gtc>Ttc		Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.							121.0	119.0	119.0					2																	108872031		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108872031G>T	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.403G>T	2.37:g.108872031G>T	ENSP00000333310:p.Val135Phe						p.V135F	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			3	403	+			135					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.403G>T	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	G	8.757	0.922721	0.18056	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.02369	4.32;4.32	3.58	1.03	0.20045	Sulfotransferase domain (1);	0.323857	0.26203	N	0.025731	T	0.05593	0.0147	L	0.47016	1.485	0.20074	N	0.999932	P	0.38745	0.645	P	0.49012	0.598	T	0.17198	-1.0377	10	0.72032	D	0.01	.	8.1575	0.31178	0.8109:0.0:0.1891:0.0	.	135	Q6IMI6	ST1C3_HUMAN	F	135	ENSP00000333310:V135F;ENSP00000365890:V135F	ENSP00000333310:V135F	V	+	1	0	SULT1C3	108238463	0.937000	0.31787	0.024000	0.17045	0.110000	0.19582	2.105000	0.41825	0.110000	0.17919	-1.128000	0.01989	GTC		0.413	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743	
SLC4A10	57282	broad.mit.edu	37	2	162813661	162813661	+	Nonsense_Mutation	SNP	A	A	T	rs543195068		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:162813661A>T	ENST00000446997.1	+	20	2797	c.2704A>T	c.(2704-2706)Aaa>Taa	p.K902*	SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.K883*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.K902*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.K872*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.K872*	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	902					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGAACAACCCAAATTTCTCGG	0.448																																						uc002ubx.4																			0		p.K901K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2704-2706)Aaa>Taa		Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.							63.0	65.0	64.0					2																	162813661		2079	4262	6341	SO:0001587	stop_gained	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162813661A>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2704A>T	2.37:g.162813661A>T	ENSP00000393066:p.Lys902*					SLC4A10_uc010zcs.2_Nonsense_Mutation_p.K883*|SLC4A10_uc002uby.4_Nonsense_Mutation_p.K872*	p.K902*	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN			19	2888	+			902					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP	ENST00000446997.1	37	c.2704A>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	40	8.285308	0.98742	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4997	0.75687	1.0:0.0:0.0:0.0	.	.	.	.	X	883;872;872;871;902;902;901	.	ENSP00000272716:K872X	K	+	1	0	SLC4A10	162521907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.108000	0.64289	0.533000	0.62120	AAA		0.448	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
SCN9A	6335	broad.mit.edu	37	2	167141278	167141278	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:167141278A>T	ENST00000409435.1	-	11	1658	c.1659T>A	c.(1657-1659)agT>agA	p.S553R	SCN9A_ENST00000375387.4_Missense_Mutation_p.S554R|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.S554R|SCN9A_ENST00000409672.1_Missense_Mutation_p.S553R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	553					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACTAAAAAGACTTGTTCTGC	0.443																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1657-1659)agT>agA		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						53.0	53.0	53.0					2																	167141278		1906	4140	6046	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141278A>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1659T>A	2.37:g.167141278A>T	ENSP00000386330:p.Ser553Arg					BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R	p.S553R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			11	2000	-			553					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1659T>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.528215	0.44969	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.64	1.96	0.26148	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	M	0.92923	3.36	0.48341	D	0.99963	B;B;P	0.37824	0.052;0.136;0.609	B;B;B	0.40009	0.057;0.084;0.316	D	0.92677	0.6155	10	0.87932	D	0	.	9.2364	0.37468	0.6526:0.0:0.3474:0.0	.	553;553;554	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	R	553;554;554;553;418;418	ENSP00000386306:S553R;ENSP00000364536:S554R;ENSP00000304748:S554R;ENSP00000386330:S553R;ENSP00000413212:S418R;ENSP00000393141:S418R	ENSP00000304748:S554R	S	-	3	2	SCN9A	166849524	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	0.674000	0.25218	0.152000	0.19188	-0.410000	0.06199	AGT		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
TTN	7273	broad.mit.edu	37	2	179456812	179456812	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:179456812T>A	ENST00000591111.1	-	252	55120	c.54896A>T	c.(54895-54897)cAt>cTt	p.H18299L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H10875L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H11000L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H19940L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H17372L|TTN_ENST00000342175.6_Missense_Mutation_p.H11067L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18299	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTCAGATGCTTAGCGAA	0.463																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(52114-52116)cAt>cTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							81.0	80.0	80.0					2																	179456812		1931	4139	6070	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456812T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54896A>T	2.37:g.179456812T>A	ENSP00000465570:p.His18299Leu					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H11067L|TTN_uc021vta.1_Missense_Mutation_p.H11000L|TTN_uc021vtb.1_Missense_Mutation_p.H10875L	p.H17372L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	52340	-			18299			Fibronectin type-III 26.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.52115A>T		.	.	.	.	.	.	.	.	.	.	T	14.14	2.445193	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62684	0.2448	M	0.68952	2.095	0.53688	D	0.999975	P;P;P;P	0.43578	0.811;0.811;0.811;0.811	P;P;P;P	0.48270	0.572;0.572;0.572;0.572	T	0.66416	-0.5929	9	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	10875;11000;11067;18299	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	17372;10875;11067;11000;10873	ENSP00000343764:H17372L;ENSP00000434586:H10875L;ENSP00000340554:H11067L;ENSP00000352154:H11000L	ENSP00000340554:H11067L	H	-	2	0	TTN	179165058	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.991000	0.88244	2.313000	0.78055	0.455000	0.32223	CAT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ACTR5	79913	broad.mit.edu	37	20	37383758	37383758	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:37383758C>T	ENST00000243903.4	+	4	971	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	312					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAATGCCCGGCGGCGGGAGGA	0.597																																						uc002xjd.2																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(934-936)Cgg>Tgg		Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.							23.0	26.0	25.0					20																	37383758		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37383758C>T	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.934C>T	20.37:g.37383758C>T	ENSP00000243903:p.Arg312Trp						p.R312W	NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN			3	959	+		Myeloproliferative disorder(115;0.00878)	312					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.934C>T	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488632	0.84854	.	.	ENSG00000101442	ENST00000243903	D	0.96830	-4.14	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98139	1.0435	10	0.51188	T	0.08	-40.4728	20.1726	0.98160	0.0:1.0:0.0:0.0	.	312	Q9H9F9	ARP5_HUMAN	W	312	ENSP00000243903:R312W	ENSP00000243903:R312W	R	+	1	2	ACTR5	36817172	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	5.267000	0.65530	2.777000	0.95525	0.655000	0.94253	CGG		0.597	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
SALL4	57167	broad.mit.edu	37	20	50400910	50400910	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:50400910G>C	ENST00000217086.4	-	4	3167	c.3056C>G	c.(3055-3057)tCc>tGc	p.S1019C	SALL4_ENST00000395997.3_Missense_Mutation_p.S582C|SALL4_ENST00000371539.3_Missense_Mutation_p.S242C	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1019					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCGACTGGGAGCCATCCAT	0.542																																						uc002xwh.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3055-3057)tCc>tGc		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							87.0	81.0	83.0					20																	50400910		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400910G>C	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.3056C>G	20.37:g.50400910G>C	ENSP00000217086:p.Ser1019Cys					SALL4_uc010gii.3_Missense_Mutation_p.S582C|SALL4_uc002xwi.4_Missense_Mutation_p.S242C	p.S1019C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			3	3157	-			1019					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.3056C>G	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249406	0.39797	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.52057	0.68;0.68;0.68	4.58	3.63	0.41609	.	0.000000	0.41294	D	0.000911	T	0.66703	0.2816	M	0.82056	2.57	0.42748	D	0.993763	B;D;D	0.89917	0.099;1.0;0.999	B;D;D	0.79784	0.027;0.98;0.993	T	0.69881	-0.5025	10	0.72032	D	0.01	-23.2044	9.9197	0.41457	0.0788:0.1391:0.7821:0.0	.	582;242;1019	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	C	1019;582;242	ENSP00000217086:S1019C;ENSP00000379319:S582C;ENSP00000360594:S242C	ENSP00000217086:S1019C	S	-	2	0	SALL4	49834317	1.000000	0.71417	0.781000	0.31783	0.237000	0.25408	7.609000	0.82925	1.037000	0.40024	0.555000	0.69702	TCC		0.542	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
HELZ2	85441	broad.mit.edu	37	20	62195800	62195800	+	Missense_Mutation	SNP	C	C	T	rs539953336	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:62195800C>T	ENST00000467148.1	-	8	4444	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E890K	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1459					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCCGCCTCCTCGTAGGACAGC	0.682																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(4375-4377)Gag>Aag		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							8.0	7.0	8.0					20																	62195800		2141	4248	6389	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62195800C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4375G>A	20.37:g.62195800C>T	ENSP00000417401:p.Glu1459Lys					PRIC285_uc002yfl.1_Missense_Mutation_p.E890K	p.E1459K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		8	5267	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1459					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.4375G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232381	0.58777	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.33654	1.4;1.4	4.97	4.97	0.65823	Ribonuclease II/R (2);	0.210788	0.47852	D	0.000213	T	0.56673	0.2001	M	0.83223	2.63	0.47659	D	0.999483	D;D	0.63046	0.97;0.992	P;P	0.52856	0.711;0.685	T	0.65952	-0.6043	10	0.66056	D	0.02	-24.7561	18.2092	0.89865	0.0:1.0:0.0:0.0	.	1459;890	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	K	890;1459	ENSP00000393257:E890K;ENSP00000417401:E1459K	ENSP00000393257:E890K	E	-	1	0	RP4-697K14.7	61666244	0.992000	0.36948	0.981000	0.43875	0.149000	0.21700	2.940000	0.49003	2.306000	0.77630	0.491000	0.48974	GAG		0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
PMM1	5372	broad.mit.edu	37	22	41974860	41974860	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr22:41974860A>G	ENST00000216259.7	-	6	584	c.500T>C	c.(499-501)gTg>gCg	p.V167A		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	167					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CAGGGCTTCCACGAACTTCTC	0.617																																						uc003bal.2																			0		p.F166F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(499-501)gTg>gCg		Homo sapiens phosphomannomutase 1 (PMM1), mRNA.							77.0	69.0	72.0					22																	41974860		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41974860A>G		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.500T>C	22.37:g.41974860A>G	ENSP00000216259:p.Val167Ala						p.V167A	NM_002676	NP_002667	Q92871	PMM1_HUMAN			5	562	-			167					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.500T>C	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	A	32	5.157292	0.94686	.	.	ENSG00000100417	ENST00000216259	D	0.98862	-5.19	5.56	5.56	0.83823	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99937	1.1368	10	0.26408	T	0.33	-19.4384	15.7046	0.77569	1.0:0.0:0.0:0.0	.	167	Q92871	PMM1_HUMAN	A	167	ENSP00000216259:V167A	ENSP00000216259:V167A	V	-	2	0	PMM1	40304806	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.090000	0.94144	2.115000	0.64714	0.533000	0.62120	GTG		0.617	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676	
SLC4A7	9497	broad.mit.edu	37	3	27431585	27431585	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:27431585C>T	ENST00000295736.5	-	22	3240	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	SLC4A7_ENST00000437179.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1049H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R607H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R933H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1066H|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R942H|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1053H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1057					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TAATTTTATACGGTCAAATAA	0.328																																						uc011aww.2																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3196-3198)cGt>cAt		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.							86.0	97.0	93.0					3																	27431585		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27431585C>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3170G>A	3.37:g.27431585C>T	ENSP00000295736:p.Arg1057His					SLC4A7_uc011awx.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wun.1_Missense_Mutation_p.R942H|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.R938H|SLC4A7_uc011axb.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.R938H|SLC4A7_uc010hfl.3_Missense_Mutation_p.R607H|SLC4A7_uc003cdv.3_Missense_Mutation_p.R1057H|SLC4A7_uc003cdw.3_Missense_Mutation_p.R933H	p.R1066H	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			21	3418	-			1057					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3197G>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305851	0.95629	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.31	5.31	0.75309	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97705	1.0187	10	0.87932	D	0	.	18.9786	0.92747	0.0:1.0:0.0:0.0	.	1053;938;1049;1053;1066;607;933;1057;938	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	H	608;1057;933;1066;1053;938;1049;938;1053;942;607;953	ENSP00000411031:R608H;ENSP00000295736:R1057H;ENSP00000416368:R933H;ENSP00000390394:R1066H;ENSP00000414797:R1053H;ENSP00000394252:R938H;ENSP00000406605:R1049H;ENSP00000407382:R938H;ENSP00000406804:R1053H;ENSP00000395336:R942H;ENSP00000373429:R607H;ENSP00000388703:R953H	ENSP00000295736:R1057H	R	-	2	0	SLC4A7	27406589	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	7.818000	0.86416	2.479000	0.83701	0.650000	0.86243	CGT		0.328	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
MST1R	4486	broad.mit.edu	37	3	49939965	49939965	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:49939965C>T	ENST00000296474.3	-	1	1105	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.V360M	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	360	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTGGGGCCCACGCCAGGACCA	0.587																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(1078-1080)Gtg>Atg		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							144.0	141.0	142.0					3																	49939965		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49939965C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1078G>A	3.37:g.49939965C>T	ENSP00000296474:p.Val360Met					MST1R_uc011bdc.2_Missense_Mutation_p.V360M|MST1R_uc011bdd.2_Missense_Mutation_p.V360M|MST1R_uc011bde.1_Missense_Mutation_p.V360M|MST1R_uc011bdf.1_Missense_Mutation_p.V360M|MST1R_uc011bdg.2_Missense_Mutation_p.V360M	p.V360M	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	0	1342	-			360			Sema.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1078G>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494357	0.26774	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.04454	3.62;3.62	4.83	0.729	0.18266	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.659026	0.14552	N	0.312597	T	0.02571	0.0078	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.30236	0.224;0.274;0.224;0.224;0.007	B;B;B;B;B	0.17433	0.018;0.015;0.018;0.012;0.006	T	0.43278	-0.9401	10	0.51188	T	0.08	-0.9594	1.2106	0.01904	0.1476:0.2848:0.3448:0.2228	.	360;360;360;360;360	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	M	360	ENSP00000296474:V360M;ENSP00000341325:V360M	ENSP00000296474:V360M	V	-	1	0	MST1R	49914969	0.000000	0.05858	0.002000	0.10522	0.784000	0.44337	-0.472000	0.06623	0.084000	0.17077	0.561000	0.74099	GTG		0.587	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		
ITIH1	3697	broad.mit.edu	37	3	52816072	52816072	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:52816072C>T	ENST00000273283.2	+	7	828	c.804C>T	c.(802-804)tgC>tgT	p.C268C	ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Silent_p.C268C|ITIH1_ENST00000540715.1_Silent_p.C126C|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	268					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAAGATCTGCGACCTCCTGG	0.587																																						uc003dfs.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(802-804)tgC>tgT		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.							140.0	122.0	128.0					3																	52816072		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52816072C>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.804C>T	3.37:g.52816072C>T						ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.C126C|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	p.C268C	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	6	834	+			268					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.804C>T	CCDS2864.1																																																																																				0.587	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
SORCS2	57537	broad.mit.edu	37	4	7666134	7666134	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:7666134C>T	ENST00000507866.2	+	7	1116	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SORCS2_ENST00000329016.9_Missense_Mutation_p.A164V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	336					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGCTGACAGCCCCATTCGCA	0.557																																						uc003gkb.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1006-1008)gCc>gTc		Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.							63.0	64.0	63.0					4																	7666134		2029	4178	6207	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7666134C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1007C>T	4.37:g.7666134C>T	ENSP00000422185:p.Ala336Val					SORCS2_uc011bwi.2_Missense_Mutation_p.A164V	p.A336V	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			6	1007	+			336					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1007C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466400	0.04476	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.30714	1.52;1.52	4.79	1.54	0.23209	VPS10 (1);	1.094360	0.07009	N	0.824750	T	0.19366	0.0465	N	0.20685	0.6	0.09310	N	1	B;B	0.18863	0.002;0.031	B;B	0.11329	0.003;0.006	T	0.29397	-1.0013	10	0.15952	T	0.53	.	9.193	0.37211	0.0:0.6417:0.0:0.3583	.	164;336	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	336;164	ENSP00000422185:A336V;ENSP00000329124:A164V	ENSP00000329124:A164V	A	+	2	0	SORCS2	7717034	0.004000	0.15560	0.001000	0.08648	0.015000	0.08874	1.135000	0.31454	0.448000	0.26722	0.650000	0.86243	GCC		0.557	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
GC	2638	broad.mit.edu	37	4	72618353	72618353	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:72618353A>G	ENST00000273951.8	-	11	1620	c.1277T>C	c.(1276-1278)cTa>cCa	p.L426P	GC_ENST00000504199.1_Missense_Mutation_p.L445P|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.L426P	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	426	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TTTTGCTTTTAGTCGCTCTGC	0.388																																						uc010iif.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(1333-1335)cTa>cCa		Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	Cholecalciferol(DB00169)						169.0	144.0	153.0					4																	72618353		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72618353A>G	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1277T>C	4.37:g.72618353A>G	ENSP00000273951:p.Leu426Pro					GC_uc003hge.3_Missense_Mutation_p.L426P|GC_uc021xpb.1_Missense_Mutation_p.L426P	p.L445P	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Lung(101;0.148)		11	1429	-		all_hematologic(202;0.107)	426		R -> C (in allele GC*2A9).|R -> H (in allele GC*1A1; dbSNP:rs9016).	Albumin 3.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1334T>C	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712862	0.48517	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.30448	1.53;1.53;1.53	5.22	5.22	0.72569	.	0.442914	0.22550	N	0.058607	T	0.52354	0.1729	M	0.65975	2.015	0.28523	N	0.912962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.52026	-0.8630	10	0.87932	D	0	.	11.7586	0.51890	1.0:0.0:0.0:0.0	.	445;426	D6RAK8;D6RF35	.;.	P	426;445;426	ENSP00000273951:L426P;ENSP00000421725:L445P;ENSP00000426683:L426P	ENSP00000273951:L426P	L	-	2	0	GC	72837217	0.143000	0.22626	0.008000	0.14137	0.033000	0.12548	4.327000	0.59247	2.089000	0.63090	0.477000	0.44152	CTA		0.388	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2		
CCSER1	401145	broad.mit.edu	37	4	91230163	91230163	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:91230163A>T	ENST00000509176.1	+	2	1016	c.728A>T	c.(727-729)cAa>cTa	p.Q243L	CCSER1_ENST00000432775.2_Missense_Mutation_p.Q243L|CCSER1_ENST00000333691.8_Missense_Mutation_p.Q243L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	243																	AGCTCTTTACAATCTCCTTTG	0.418																																						uc003hsv.4																			0				NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(727-729)cAa>cTa		Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.							84.0	78.0	80.0					4																	91230163		1875	4104	5979	SO:0001583	missense	401145							g.chr4:91230163A>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.728A>T	4.37:g.91230163A>T	ENSP00000425040:p.Gln243Leu					FAM190A_uc003hsu.3_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.Q243L	p.Q243L	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			1	1068	+			243					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.728A>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345968	0.41599	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.57907	0.85;0.37;0.85	4.94	-0.956	0.10353	.	0.266370	0.37623	N	0.002006	T	0.50292	0.1607	L	0.48642	1.525	0.35164	D	0.770922	P;B;P	0.44478	0.836;0.449;0.675	P;B;B	0.46758	0.526;0.265;0.265	T	0.64300	-0.6440	10	0.87932	D	0	-2.6463	14.2231	0.65841	0.5048:0.4952:0.0:0.0	.	243;243;243	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	243	ENSP00000425040:Q243L;ENSP00000389283:Q243L;ENSP00000329482:Q243L	ENSP00000329482:Q243L	Q	+	2	0	FAM190A	91449186	1.000000	0.71417	0.013000	0.15412	0.996000	0.88848	4.553000	0.60753	-0.187000	0.10516	0.533000	0.62120	CAA		0.418	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
ZGRF1	55345	broad.mit.edu	37	4	113481967	113481967	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:113481967G>T	ENST00000505019.1	-	19	5007	c.4882C>A	c.(4882-4884)Caa>Aaa	p.Q1628K		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1628						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCCATCATTTGAGCTATTTGA	0.378																																						uc003iau.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4882-4884)Caa>Aaa		Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.							176.0	161.0	166.0					4																	113481967		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113481967G>T																												ENST00000505019.1:c.4882C>A	4.37:g.113481967G>T	ENSP00000424737:p.Gln1628Lys					C4orf21_uc003iav.3_Non-coding_Transcript|C4orf21_uc003iat.3_Missense_Mutation_p.Q86K	p.Q1628K	NM_018392	NP_060862	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	18	5093	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.4882C>A		.	.	.	.	.	.	.	.	.	.	G	5.090	0.202229	0.09652	.	.	ENSG00000138658	ENST00000505019	T	0.80994	-1.44	5.95	5.1	0.69264	.	1.032310	0.07676	N	0.936260	T	0.72503	0.3468	L	0.38175	1.15	0.32207	N	0.57706	P;B	0.39311	0.667;0.129	B;B	0.35655	0.207;0.084	T	0.64097	-0.6487	10	0.13853	T	0.58	-14.8576	12.717	0.57121	0.0:0.126:0.7429:0.1311	.	1628;86	G5EA02;B3KQX2	.;.	K	1628	ENSP00000424737:Q1628K	ENSP00000404365:Q526K	Q	-	1	0	C4orf21	113701416	0.290000	0.24343	0.085000	0.20634	0.195000	0.23768	1.742000	0.38248	1.495000	0.48549	0.650000	0.86243	CAA		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
ANK2	287	broad.mit.edu	37	4	114251469	114251469	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:114251469C>G	ENST00000357077.4	+	27	3021	c.2968C>G	c.(2968-2970)Cga>Gga	p.R990G	ANK2_ENST00000509550.1_Missense_Mutation_p.R199G|ANK2_ENST00000506722.1_Missense_Mutation_p.R981G|ANK2_ENST00000264366.6_Missense_Mutation_p.R990G|ANK2_ENST00000394537.3_Missense_Mutation_p.R990G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	990	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATGGGCTCCGAATCATTAT	0.473																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2968-2970)Cga>Gga		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							77.0	71.0	73.0					4																	114251469		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114251469C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2968C>G	4.37:g.114251469C>G	ENSP00000349588:p.Arg990Gly					ANK2_uc003ibd.4_Missense_Mutation_p.R981G|ANK2_uc003ibf.4_Missense_Mutation_p.R990G|ANK2_uc011cgc.2_Missense_Mutation_p.R199G|ANK2_uc003ibg.4_Missense_Mutation_p.R18G|ANK2_uc003ibc.2_Missense_Mutation_p.R966G|ANK2_uc011cgb.1_Missense_Mutation_p.R1005G	p.R990G	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	26	3068	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	990			Interaction with SPTBN1.|ZU5.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2968C>G	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.990038|3.990038	0.74589|0.74589	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.93|5.93	3.98|3.98	0.46160|0.46160	.|ZU5 (3);	.|0.000000	.|0.49916	.|D	.|0.000133	T|T	0.63212|0.63212	0.2492|0.2492	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.994;1.0;0.999;0.992	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.964;0.999;0.971;0.979	T|T	0.68029|0.68029	-0.5517|-0.5517	5|10	.|0.87932	.|D	.|0	.|.	15.6511|15.6511	0.77095|0.77095	0.3331:0.6669:0.0:0.0|0.3331:0.6669:0.0:0.0	.|.	.|199;990;35;990;990;981;981	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	R|G	35|969;936;981;69;1005;990;990;990;981;199	.|ENSP00000423799:R969G;ENSP00000421011:R936G;ENSP00000421067:R981G;ENSP00000424722:R1005G;ENSP00000378044:R990G;ENSP00000349588:R990G;ENSP00000264366:R990G;ENSP00000426944:R199G	.|ENSP00000264366:R990G	P|R	+|+	2|1	0|2	ANK2|ANK2	114470918|114470918	0.750000|0.750000	0.28316|0.28316	0.990000|0.990000	0.47175|0.47175	0.948000|0.948000	0.59901|0.59901	1.476000|1.476000	0.35420|0.35420	1.444000|1.444000	0.47605|0.47605	0.563000|0.563000	0.77884|0.77884	CCG|CGA		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
TMA16	55319	broad.mit.edu	37	4	164415798	164415798	+	5'UTR	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:164415798C>T	ENST00000358572.5	+	0	186				TMA16_ENST00000513272.1_5'Flank|TMA16_ENST00000513134.1_5'Flank|TMA16_ENST00000508268.1_5'Flank	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)							nucleus (GO:0005634)											TTTAGAGAAACGCACTCGCCT	0.632																																						uc003iqq.4																			0													Homo sapiens chromosome 4 open reading frame 43 (C4orf43), mRNA.																																				SO:0001623	5_prime_UTR_variant	55319							g.chr4:164415798C>T		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.-156C>T	4.37:g.164415798C>T								NM_018352	NP_060822	Q96EY4	CD043_HUMAN			0		+								Q0P6E4|Q0P6J1|Q9NUR7	Translation_Start_Site	SNP	ENST00000358572.5	37		CCDS43278.1																																																																																				0.632	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352	
MYO10	4651	broad.mit.edu	37	5	16769271	16769271	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:16769271C>T	ENST00000513610.1	-	10	1426	c.972G>A	c.(970-972)cgG>cgA	p.R324R		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	324	Myosin motor.		R -> W (in dbSNP:rs11750538). {ECO:0000269|PubMed:10984435, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGACACTTCCCGAACTTCCT	0.413																																						uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(970-972)cgG>cgA		Homo sapiens myosin X (MYO10), mRNA.							111.0	102.0	105.0					5																	16769271		1925	4136	6061	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16769271C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.972G>A	5.37:g.16769271C>T						MYO10_uc010itx.3_5'Flank	p.R324R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			9	1440	-			324		R -> W (in dbSNP:rs11750538).	Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.972G>A	CCDS54834.1																																																																																				0.413	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
TSSK1B	83942	broad.mit.edu	37	5	112769636	112769636	+	Missense_Mutation	SNP	C	C	T	rs371461523		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:112769636C>T	ENST00000390666.3	-	1	1092	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	301					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GAGCCAGGTTCGGGGGTCCAC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17425	0.0		0.0	False		,,,				2504	0.001					uc003kqm.2																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(901-903)Gaa>Aaa		Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.		C	,LYS/GLU	0,4180		0,0,2090	35.0	39.0	38.0		,901	0.9	0.1	5		38	1,8489		0,1,4244	no	intron,missense	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,56	0,1,6334	TT,TC,CC		0.0118,0.0,0.0079	,benign	,301/368	112769636	1,12669	2090	4245	6335	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769636C>T	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.901G>A	5.37:g.112769636C>T	ENSP00000375081:p.Glu301Lys					MCC_uc003kql.4_Intron	p.E301K	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	0	1093	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	301					B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.901G>A	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	C	6.540	0.467956	0.12402	0.0	1.18E-4	ENSG00000212122	ENST00000390666	T	0.68025	-0.3	0.9	0.9	0.19278	Protein kinase-like domain (1);	0.222293	0.22012	U	0.065853	T	0.35219	0.0924	N	0.08118	0	0.21697	N	0.999583	B	0.06786	0.001	B	0.01281	0.0	T	0.17018	-1.0383	10	0.08381	T	0.77	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	301	Q9BXA7	TSSK1_HUMAN	K	301	ENSP00000375081:E301K	ENSP00000375081:E301K	E	-	1	0	TSSK1B	112797535	0.001000	0.12720	0.050000	0.19076	0.051000	0.14879	-0.332000	0.07904	0.308000	0.22923	0.313000	0.20887	GAA		0.622	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028	
PCDHGA1	56114	broad.mit.edu	37	5	140711854	140711854	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:140711854C>T	ENST00000517417.1	+	1	1603	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R535W|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGATGGCGCGGGACAGTGG	0.602																																						uc003lji.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1603-1605)Cgg>Tgg		Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.							184.0	197.0	192.0					5																	140711854		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711854C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1603C>T	5.37:g.140711854C>T	ENSP00000431083:p.Arg535Trp					PCDHGC5_uc011dan.2_Missense_Mutation_p.R535W	p.R535W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1603	+			537			Cadherin 5.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1603C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.204980	0.06180	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.54866	0.55;0.55	3.82	-1.5	0.08691	Cadherin (5);Cadherin-like (1);	3.495430	0.01896	N	0.038898	T	0.54532	0.1864	M	0.83774	2.66	0.09310	N	1	B;B	0.25351	0.06;0.124	B;B	0.21546	0.033;0.035	T	0.38478	-0.9659	10	0.54805	T	0.06	.	4.6906	0.12780	0.5261:0.293:0.0973:0.0837	.	535;535	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	W	535	ENSP00000431083:R535W;ENSP00000367345:R535W	ENSP00000367345:R535W	R	+	1	2	PCDHGA1	140692038	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.652000	0.01988	-0.255000	0.09486	0.557000	0.71058	CGG		0.602	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
FBXO38	81545	broad.mit.edu	37	5	147782003	147782003	+	Silent	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:147782003A>G	ENST00000340253.5	+	5	687	c.519A>G	c.(517-519)ggA>ggG	p.G173G	FBXO38_ENST00000296701.6_Silent_p.G173G|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Silent_p.G173G|FBXO38_ENST00000513826.1_Silent_p.G173G			Q6PIJ6	FBX38_HUMAN	F-box protein 38	173					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGTAATGGAGCTTTTCCAA	0.363																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(517-519)ggA>ggG		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							118.0	119.0	119.0					5																	147782003		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147782003A>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.519A>G	5.37:g.147782003A>G						FBXO38_uc003lpg.1_Silent_p.G173G|FBXO38_uc003lph.2_Silent_p.G173G	p.G173G	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	639	+			173					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.519A>G																																																																																					0.363	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
EXOC2	55770	broad.mit.edu	37	6	619481	619481	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:619481C>T	ENST00000230449.4	-	5	620	c.485G>A	c.(484-486)aGt>aAt	p.S162N	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	162					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAAATTCTCACTTGTAAAATC	0.378																																						uc003mtd.3																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(484-486)aGt>aAt		Homo sapiens exocyst complex component 2 (EXOC2), mRNA.							128.0	128.0	128.0					6																	619481		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:619481C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.485G>A	6.37:g.619481C>T	ENSP00000230449:p.Ser162Asn					EXOC2_uc003mte.3_Missense_Mutation_p.S162N|EXOC2_uc011dho.2_Intron	p.S162N	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	4	619	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	162					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.485G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218261	0.58560	.	.	ENSG00000112685	ENST00000230449	T	0.55930	0.49	4.99	4.99	0.66335	.	0.037922	0.85682	D	0.000000	T	0.31670	0.0804	L	0.31065	0.9	0.80722	D	1	B	0.15719	0.014	B	0.12837	0.008	T	0.15549	-1.0433	10	0.54805	T	0.06	1.6314	18.6451	0.91408	0.0:1.0:0.0:0.0	.	162	Q96KP1	EXOC2_HUMAN	N	162	ENSP00000230449:S162N	ENSP00000230449:S162N	S	-	2	0	EXOC2	564481	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.421000	0.80204	2.457000	0.83068	0.591000	0.81541	AGT		0.378	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	
HLA-DQA2	3118	broad.mit.edu	37	6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	rs144060347		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:32713607C>T	ENST00000374940.3	+	3	473	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TTTCCTGTGACGCTGGGTCAG	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24198	0.0		0.0	False		,,,				2504	0.0					uc003obx.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(370-372)aCg>aTg		Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	MET/THR	1,3021		0,1,1510	193.0	152.0	167.0		371	-6.1	0.1	6	dbSNP_134	167	0,5418		0,0,2709	no	missense	HLA-DQA2	NM_020056.4	81	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	benign	124/256	32713607	1,8439	1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713607C>T		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.371C>T	6.37:g.32713607C>T	ENSP00000364076:p.Thr124Met						p.T124M	NM_020056	NP_064440	P01906	DQA2_HUMAN			2	429	+			124			Alpha-2.|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.371C>T	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	1.637	-0.517475	0.04171	3.31E-4	0.0	ENSG00000237541	ENST00000374940	T	0.02944	4.1	3.06	-6.13	0.02118	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	1.076460	0.07279	N	0.870376	T	0.00356	0.0011	N	0.03304	-0.355	0.19575	N	0.999965	B	0.12630	0.006	B	0.08055	0.003	T	0.47674	-0.9099	10	0.27785	T	0.31	.	1.4748	0.02424	0.1405:0.315:0.142:0.4025	.	124	P01906	DQA2_HUMAN	M	124	ENSP00000364076:T124M	ENSP00000364076:T124M	T	+	2	0	HLA-DQA2	32821585	0.016000	0.18221	0.086000	0.20670	0.026000	0.11368	-0.799000	0.04560	-0.954000	0.03640	0.174000	0.16983	ACG		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056	
BRPF3	27154	broad.mit.edu	37	6	36175096	36175096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:36175096delC	ENST00000357641.6	+	4	1865	c.1612delC	c.(1612-1614)cagfs	p.Q538fs	BRPF3_ENST00000534400.1_Frame_Shift_Del_p.Q538fs|BRPF3_ENST00000534694.1_Frame_Shift_Del_p.Q538fs|BRPF3_ENST00000543502.1_Frame_Shift_Del_p.Q538fs|BRPF3_ENST00000443324.2_Frame_Shift_Del_p.Q538fs|BRPF3_ENST00000339717.7_Frame_Shift_Del_p.Q538fs	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	538					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GTAGCGAGAGCAGGATGAGAA	0.547																																						uc003olv.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1612-1614)cagfs		Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.							71.0	64.0	66.0					6																	36175096		2203	4300	6503	SO:0001589	frameshift_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36175096delC	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1612delC	6.37:g.36175096delC	ENSP00000350267:p.Gln538fs					BRPF3_uc010jwb.3_Frame_Shift_Del_p.Q538fs|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Frame_Shift_Del_p.Q538fs	p.Q538fs	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			3	1836	+			538					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Frame_Shift_Del	DEL	ENST00000357641.6	37	c.1612delC	CCDS34437.1																																																																																				0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	
BMP5	653	broad.mit.edu	37	6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:55620351G>A	ENST00000370830.3	-	7	2043	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	BMP5_ENST00000446683.2_Missense_Mutation_p.R412C	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	449					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATGAGCGTACTACCATA	0.328																																						uc003pcq.3																			0		p.R449H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1345-1347)Cgc>Tgc		Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.							55.0	58.0	57.0					6																	55620351		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55620351G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1345C>T	6.37:g.55620351G>A	ENSP00000359866:p.Arg449Cys					BMP5_uc011dxf.2_Missense_Mutation_p.R412C	p.R449C	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		6	2057	-	Lung NSC(77;0.0462)		449					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1345C>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408449	0.62399	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.89415	-2.51;-2.51	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	D	0.93716	0.7028	10	0.87932	D	0	.	15.0392	0.71774	0.0:0.0:0.8579:0.1421	.	412;449	B4E0Y4;P22003	.;BMP5_HUMAN	C	449;412	ENSP00000359866:R449C;ENSP00000391818:R412C	ENSP00000359866:R449C	R	-	1	0	BMP5	55728310	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	5.038000	0.64177	2.854000	0.98071	0.655000	0.94253	CGC		0.328	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1		
MMS22L	253714	broad.mit.edu	37	6	97613246	97613246	+	Nonsense_Mutation	SNP	G	G	A	rs146474162		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:97613246G>A	ENST00000275053.4	-	21	3362	c.3097C>T	c.(3097-3099)Cga>Tga	p.R1033*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.R993*	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1033					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGAAGAAATCGCCCAATATAC	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		17624	0.001		0.0	False		,,,				2504	0.0					uc003ppb.3																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3097-3099)Cga>Tga		Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.							118.0	110.0	113.0					6																	97613246		2203	4300	6503	SO:0001587	stop_gained	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97613246G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3097C>T	6.37:g.97613246G>A	ENSP00000275053:p.Arg1033*					MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Nonsense_Mutation_p.R993*	p.R1033*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN			20	3363	-			1033					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Nonsense_Mutation	SNP	ENST00000275053.4	37	c.3097C>T	CCDS5039.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	43	10.134346	0.99344	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	.	.	.	5.79	3.98	0.46160	.	0.054767	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4903	15.3483	0.74359	0.0:0.0:0.7456:0.2544	.	.	.	.	X	1033;993	.	ENSP00000275053:R1033X	R	-	1	2	MMS22L	97719967	0.998000	0.40836	0.999000	0.59377	0.989000	0.77384	3.990000	0.56965	0.758000	0.33059	-0.181000	0.13052	CGA		0.393	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
GRIK2	2898	broad.mit.edu	37	6	102483322	102483322	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:102483322C>G	ENST00000421544.1	+	14	2682	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	GRIK2_ENST00000318991.6_Missense_Mutation_p.S731C|GRIK2_ENST00000369138.1_Missense_Mutation_p.S731C|GRIK2_ENST00000413795.1_Missense_Mutation_p.S731C|GRIK2_ENST00000369137.3_Missense_Mutation_p.S655C|GRIK2_ENST00000369134.4_Missense_Mutation_p.S682C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	731					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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 cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTCCTCACCTCTGATTATGCT	0.443																																						uc003pqp.4																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2191-2193)tCt>tGt		Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						170.0	170.0	170.0					6																	102483322		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102483322C>G		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2192C>G	6.37:g.102483322C>G	ENSP00000397026:p.Ser731Cys					GRIK2_uc010kcw.3_Missense_Mutation_p.S731C|GRIK2_uc003pqo.4_Missense_Mutation_p.S731C|GRIK2_uc021zdk.1_Missense_Mutation_p.S544C|GRIK2_uc021zdl.1_Non-coding_Transcript	p.S731C	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	13	2485	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	731					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2192C>G	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113928	0.94339	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	M	0.77820	2.39	0.58432	D	0.999993	P;P;P	0.52842	0.946;0.956;0.946	P;P;P	0.57425	0.721;0.82;0.725	T	0.03503	-1.1030	10	0.72032	D	0.01	.	19.301	0.94144	0.0:1.0:0.0:0.0	.	731;731;731	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	731;731;731;655;731;682;506	ENSP00000397026:S731C;ENSP00000405596:S731C;ENSP00000358134:S731C;ENSP00000358133:S655C;ENSP00000313276:S731C;ENSP00000358130:S682C	ENSP00000313276:S731C	S	+	2	0	GRIK2	102590015	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.555000	0.86185	0.655000	0.94253	TCT		0.443	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
PCLO	27445	broad.mit.edu	37	7	82508670	82508670	+	Missense_Mutation	SNP	G	G	A	rs576824740		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr7:82508670G>A	ENST00000333891.9	-	10	13974	c.13637C>T	c.(13636-13638)aCg>aTg	p.T4546M	PCLO_ENST00000423517.2_Missense_Mutation_p.T4546M|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T4546M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGCTTCCCCGTCTGTTCCGC	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		15325	0.0		0.0	False		,,,				2504	0.001					uc003uhx.2																			1	Substitution - Missense(1)	p.T4546M(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13636-13638)aCg>aTg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							79.0	72.0	74.0					7																	82508670		1828	4064	5892	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82508670G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13637C>T	7.37:g.82508670G>A	ENSP00000334319:p.Thr4546Met					PCLO_uc003uhv.2_Missense_Mutation_p.T4546M|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR	p.T4546M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			9	13926	-			4440						Missense_Mutation	SNP	ENST00000333891.9	37	c.13637C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873661	0.33069	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.27557	1.66;1.66	4.8	4.8	0.61643	.	.	.	.	.	T	0.41305	0.1153	M	0.75615	2.305	0.80722	D	1	P;P	0.51933	0.949;0.949	B;B	0.44044	0.439;0.439	T	0.53136	-0.8481	9	0.87932	D	0	.	17.8176	0.88639	0.0:0.0:1.0:0.0	.	4546;4546	Q9Y6V0-5;Q9Y6V0-6	.;.	M	4546;4546;42	ENSP00000334319:T4546M;ENSP00000388393:T4546M	ENSP00000334319:T4546M	T	-	2	0	PCLO	82346606	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.787000	0.85759	2.364000	0.80123	0.591000	0.81541	ACG		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
CSMD1	64478	broad.mit.edu	37	8	4277522	4277522	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:4277522G>A	ENST00000520002.1	-	3	923	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CSMD1_ENST00000602723.1_Missense_Mutation_p.T123M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T123M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T123M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T123M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T123M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T123M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	123	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGTCTGTCGTGAACCACAG	0.403																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(367-369)aCg>aTg		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.																																				SO:0001583	missense	64478					integral to membrane		g.chr8:4277522G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.368C>T	8.37:g.4277522G>A	ENSP00000430733:p.Thr123Met						p.T123M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	758	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	123			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.368C>T		.	.	.	.	.	.	.	.	.	.	G	15.09	2.730077	0.48939	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.35	5.35	0.76521	.	.	.	.	.	T	0.54046	0.1834	M	0.61703	1.905	0.40543	D	0.98104	D	0.89917	1.0	D	0.87578	0.998	T	0.54984	-0.8211	9	0.59425	D	0.04	.	16.9053	0.86126	0.0:0.0:1.0:0.0	.	123	E5RIG2	.	M	123	ENSP00000383047:T123M;ENSP00000430733:T123M;ENSP00000441462:T123M;ENSP00000446243:T123M;ENSP00000441675:T123M	ENSP00000383047:T123M	T	-	2	0	CSMD1	4264930	1.000000	0.71417	0.958000	0.39756	0.327000	0.28475	6.932000	0.75869	2.658000	0.90341	0.650000	0.86243	ACG		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
ADAM7	8756	broad.mit.edu	37	8	24357714	24357714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:24357714C>A	ENST00000175238.6	+	18	2030	c.1947C>A	c.(1945-1947)tgC>tgA	p.C649*	ADAM7_ENST00000380789.1_Nonsense_Mutation_p.C649*|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.C421*|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	649	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		gaCTCCAGTGCCACTGTGAGG	0.433																																						uc003xeb.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(1945-1947)tgC>tgA		Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.							69.0	64.0	66.0					8																	24357714		2203	4300	6503	SO:0001587	stop_gained	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24357714C>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1947C>A	8.37:g.24357714C>A	ENSP00000175238:p.Cys649*					ADAM7_uc003xec.3_Nonsense_Mutation_p.C421*	p.C649*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	17	2060	+		Prostate(55;0.0181)	649			Cys-rich.		A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	ENST00000175238.6	37	c.1947C>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805452	0.90623	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	5.19	0.579	0.17397	.	0.000000	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8928	0.29688	0.0:0.5379:0.0:0.4621	.	.	.	.	X	649;649;421;464	.	ENSP00000175238:C649X	C	+	3	2	ADAM7	24413604	0.677000	0.27577	0.272000	0.24630	0.270000	0.26580	0.021000	0.13489	0.257000	0.21650	0.491000	0.48974	TGC		0.433	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
ERLIN2	11160	broad.mit.edu	37	8	37605006	37605006	+	Intron	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:37605006C>T	ENST00000276461.5	+	7	491				ERLIN2_ENST00000519638.1_Intron	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCAGCAACTTCCCTAGCCTCA	0.483																																						uc010lvx.2																			0											c.(517-519)Gaa>Aaa		Homo sapiens chromosome X open reading frame 56 pseudogene (LOC728024), non-coding RNA.																																				SO:0001627	intron_variant	728024							g.chr8:37605006C>T	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.425-2071C>T	8.37:g.37605006C>T						ERLIN2_uc003xke.4_Intron	p.E173K							0	559	-								A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.517G>A	CCDS6095.1																																																																																				0.483	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175	
XKR9	389668	broad.mit.edu	37	8	71646034	71646034	+	Missense_Mutation	SNP	C	C	T	rs140711820		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:71646034C>T	ENST00000408926.3	+	5	1031	c.497C>T	c.(496-498)gCg>gTg	p.A166V	XKR9_ENST00000520030.1_Missense_Mutation_p.A166V|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	166						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTTGTAGATGCGGCCATCATG	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		16079	0.0		0.0	False		,,,				2504	0.001					uc003xyq.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(496-498)gCg>gTg		Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.		C	VAL/ALA	0,4406		0,0,2203	40.0	37.0	38.0		497	0.6	0.0	8	dbSNP_134	38	1,8595	1.2+/-3.3	0,1,4297	no	missense	XKR9	NM_001011720.1	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	166/374	71646034	1,13001	2203	4298	6501	SO:0001583	missense	389668					integral to membrane		g.chr8:71646034C>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.497C>T	8.37:g.71646034C>T	ENSP00000386141:p.Ala166Val					XKR9_uc010lzd.3_Missense_Mutation_p.A34V|XKR9_uc010lze.3_Missense_Mutation_p.A166V	p.A166V	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	1031	+	Breast(64;0.0716)		166					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.497C>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.200063	0.00296	0.0	1.16E-4	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.61040	0.14;0.14	4.69	0.601	0.17529	.	0.831292	0.11013	N	0.609185	T	0.37019	0.0988	L	0.39514	1.22	0.09310	N	0.999998	P	0.40066	0.701	B	0.32980	0.156	T	0.22836	-1.0205	10	0.02654	T	1	0.4098	8.6569	0.34068	0.0:0.5719:0.0:0.4281	.	166	Q5GH70	XKR9_HUMAN	V	166	ENSP00000386141:A166V;ENSP00000431088:A166V	ENSP00000386141:A166V	A	+	2	0	XKR9	71808588	0.901000	0.30685	0.009000	0.14445	0.006000	0.05464	0.583000	0.23849	-0.006000	0.14370	-0.251000	0.11542	GCG		0.308	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720	
GLIS3	169792	broad.mit.edu	37	9	4117963	4117963	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:4117963G>A	ENST00000324333.10	-	3	1243	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	GLIS3_ENST00000381971.3_Silent_p.I505I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGCTGCAGTCGATCCAGCGGC	0.667																																						uc003zhx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1513-1515)atC>atT		Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.							75.0	68.0	70.0					9																	4117963		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117963G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1050C>T	9.37:g.4117963G>A						GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zhw.1_Silent_p.I350I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I	p.I505I	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	2228	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	350					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.1515C>T	CCDS6451.1																																																																																				0.667	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
TESK1	7016	broad.mit.edu	37	9	35609198	35609198	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:35609198G>A	ENST00000336395.5	+	10	1590	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	447					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCCCGCCGTATGGAGACA	0.687																																						uc003zxa.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1339-1341)cGt>cAt		Homo sapiens testis-specific kinase 1 (TESK1), mRNA.							51.0	60.0	57.0					9																	35609198		2203	4296	6499	SO:0001583	missense	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609198G>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1340G>A	9.37:g.35609198G>A	ENSP00000338127:p.Arg447His					TESK1_uc010mks.3_Missense_Mutation_p.R287H	p.R447H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1676	+			447					Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	c.1340G>A	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874125	0.51695	.	.	ENSG00000107140	ENST00000336395	T	0.64991	-0.13	5.69	4.79	0.61399	.	0.000000	0.40908	D	0.001000	T	0.49287	0.1548	L	0.34521	1.04	0.27122	N	0.962111	B;B	0.30605	0.287;0.028	B;B	0.16722	0.016;0.004	T	0.51325	-0.8720	10	0.72032	D	0.01	-1.9891	13.3231	0.60444	0.0766:0.0:0.9233:0.0	.	365;447	B4DQQ3;Q15569	.;TESK1_HUMAN	H	447	ENSP00000338127:R447H	ENSP00000338127:R447H	R	+	2	0	TESK1	35599198	0.010000	0.17322	0.990000	0.47175	0.835000	0.47333	1.694000	0.37752	1.394000	0.46624	0.655000	0.94253	CGT		0.687	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285	
FBP2	8789	broad.mit.edu	37	9	97333806	97333806	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:97333806C>T	ENST00000375337.3	-	4	571	c.505G>A	c.(505-507)Ggt>Agt	p.G169S		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	169					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GTTGCACTACCGTACAGCGCA	0.552																																						uc004auv.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(505-507)Ggt>Agt		Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.							114.0	94.0	101.0					9																	97333806		2203	4300	6503	SO:0001583	missense	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97333806C>T	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.505G>A	9.37:g.97333806C>T	ENSP00000364486:p.Gly169Ser						p.G169S	NM_003837	NP_003828	O00757	F16P2_HUMAN			3	572	-		Acute lymphoblastic leukemia(62;0.136)	169					Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	c.505G>A	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.660000	0.88154	.	.	ENSG00000130957	ENST00000375337	D	0.92647	-3.08	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.95999	0.8697	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.96409	0.9303	10	0.87932	D	0	-19.7118	18.8707	0.92313	0.0:1.0:0.0:0.0	.	169	O00757	F16P2_HUMAN	S	169	ENSP00000364486:G169S	ENSP00000364486:G169S	G	-	1	0	FBP2	96373627	1.000000	0.71417	0.933000	0.37362	0.475000	0.33008	7.585000	0.82584	2.451000	0.82905	0.557000	0.71058	GGT		0.552	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837	
USP20	10868	broad.mit.edu	37	9	132638480	132638480	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:132638480C>T	ENST00000315480.4	+	22	2530	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	USP20_ENST00000358355.1_Missense_Mutation_p.A791V|USP20_ENST00000372429.3_Missense_Mutation_p.A791V			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	791	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGGCACTGGCCAAGCGCAGG	0.677																																						uc004bys.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(2371-2373)gCc>gTc		Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.							29.0	32.0	31.0					9																	132638480		2081	4210	6291	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132638480C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2372C>T	9.37:g.132638480C>T	ENSP00000313811:p.Ala791Val					USP20_uc004byr.2_Missense_Mutation_p.A791V|USP20_uc004byt.1_Missense_Mutation_p.A791V	p.A791V	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN			21	2583	+		Ovarian(14;0.00556)	791			DUSP 2.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2372C>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886192	0.91814	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19105	2.17;2.17;2.17	5.78	5.78	0.91487	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.02004	-1.1231	10	0.40728	T	0.16	.	19.0093	0.92867	0.0:1.0:0.0:0.0	.	791	Q9Y2K6	UBP20_HUMAN	V	791	ENSP00000361506:A791V;ENSP00000313811:A791V;ENSP00000351122:A791V	ENSP00000313811:A791V	A	+	2	0	USP20	131678301	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.660000	0.68018	2.741000	0.93983	0.555000	0.69702	GCC		0.677	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		
DMD	1756	broad.mit.edu	37	X	31165414	31165414	+	Missense_Mutation	SNP	C	C	G	rs398123845		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:31165414C>G	ENST00000357033.4	-	75	10981	c.10775G>C	c.(10774-10776)aGg>aCg	p.R3592T	DMD_ENST00000378677.2_Missense_Mutation_p.R3588T|DMD_ENST00000378707.3_Missense_Mutation_p.R1132T|DMD_ENST00000361471.4_Missense_Mutation_p.R511T|DMD_ENST00000474231.1_Missense_Mutation_p.R1132T|DMD_ENST00000378723.3_Missense_Mutation_p.R524T|DMD_ENST00000378680.2_Missense_Mutation_p.R414T|DMD_ENST00000343523.2_Missense_Mutation_p.R1022T|DMD_ENST00000378702.4_Missense_Mutation_p.R524T|DMD_ENST00000359836.1_Missense_Mutation_p.R1119T|DMD_ENST00000541735.1_Missense_Mutation_p.R1022T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3592					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCTTAGCCTGTGTAACTG	0.458																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(10774-10776)aGg>aCg		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							94.0	85.0	88.0					X																	31165414		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31165414C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10775G>C	X.37:g.31165414C>G	ENSP00000354923:p.Arg3592Thr					DMD_uc004dcq.1_Missense_Mutation_p.R863T|DMD_uc004dcr.1_Missense_Mutation_p.R1022T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc011mkb.1_Missense_Mutation_p.R414T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T	p.R3592T	NM_004006	NP_004001	P11532	DMD_HUMAN			74	11019	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3592					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10775G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.300327|4.300327	0.81136|0.81136	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.69175	.|1.96;3.67;-0.38;-0.38;3.57;3.19;3.59;3.24;1.96;3.64;1.91;1.69	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	.|0.000000	.|0.38217	.|U	.|0.001765	D|D	0.83170|0.83170	0.5196|0.5196	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.987;0.994;0.993;0.981;0.999;0.999;1.0;1.0;1.0;0.967;0.981;1.0;0.981;1.0;0.999;0.993	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.91635	.|0.942;0.983;0.977;0.966;0.991;0.991;0.998;0.987;0.987;0.916;0.962;0.999;0.962;0.998;0.99;0.977	D|D	0.85043|0.85043	0.0924|0.0924	5|10	.|0.45353	.|T	.|0.12	.|.	16.7086|16.7086	0.85379|0.85379	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|414;3584;3592;3588;2251;2248;1119;1132;1132;1022;1022;3469;511;524;511;524	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	H|T	1320|3584;2251;2248;524;1275;3588;3592;1119;1022;3592;3469;1132;1022;524;1132;511;414	.|ENSP00000367997:R524T;ENSP00000350765:R1275T;ENSP00000367948:R3588T;ENSP00000354923:R3592T;ENSP00000352894:R1119T;ENSP00000340057:R1022T;ENSP00000367979:R1132T;ENSP00000444119:R1022T;ENSP00000367974:R524T;ENSP00000417123:R1132T;ENSP00000354464:R511T;ENSP00000367951:R414T	.|ENSP00000340057:R1022T	Q|R	-|-	3|2	2|0	DMD|DMD	31075335|31075335	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.993000|0.993000	0.82548|0.82548	7.651000|7.651000	0.83577|0.83577	2.118000|2.118000	0.64928|0.64928	0.513000|0.513000	0.50165|0.50165	CAG|AGG		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
MAGEB16	139604	broad.mit.edu	37	X	35820765	35820765	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:35820765T>A	ENST00000399989.1	+	2	731	c.452T>A	c.(451-453)tTc>tAc	p.F151Y	MAGEB16_ENST00000399988.1_Missense_Mutation_p.F151Y|MAGEB16_ENST00000399987.1_Missense_Mutation_p.F151Y|MAGEB16_ENST00000399985.1_Missense_Mutation_p.F151Y|MAGEB16_ENST00000399992.1_Missense_Mutation_p.F183Y	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	151	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGAGCCACTTCTCTGAGATC	0.448																																						uc010ngt.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(451-453)tTc>tAc		Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.							80.0	78.0	78.0					X																	35820765		2030	4175	6205	SO:0001583	missense	139604							g.chrX:35820765T>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.452T>A	X.37:g.35820765T>A	ENSP00000382871:p.Phe151Tyr					MAGEB16_uc022bus.1_Missense_Mutation_p.F151Y	p.F151Y	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			1	731	+			151			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.452T>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416586	0.42918	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	3.13	1.9	0.25705	.	0.246954	0.42420	D	0.000720	T	0.14700	0.0355	M	0.68317	2.08	0.09310	N	1	D	0.60160	0.987	P	0.60949	0.881	T	0.03840	-1.0999	10	0.51188	T	0.08	.	5.6389	0.17552	0.0:0.0:0.2809:0.7191	.	151	A2A368	MAGBG_HUMAN	Y	151;183;151;151;151	ENSP00000382870:F151Y;ENSP00000382874:F183Y;ENSP00000382869:F151Y;ENSP00000382871:F151Y;ENSP00000382867:F151Y	ENSP00000382867:F151Y	F	+	2	0	MAGEB16	35730686	0.003000	0.15002	0.001000	0.08648	0.047000	0.14425	0.608000	0.24223	0.438000	0.26450	0.423000	0.28283	TTC		0.448	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1		
TGIF2LX	90316	broad.mit.edu	37	X	89177576	89177576	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:89177576G>A	ENST00000561129.2	+	1	622	c.492G>A	c.(490-492)aaG>aaA	p.K164K	TGIF2LX_ENST00000283891.5_Silent_p.K164K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCTTGCCAAAGGGCCAGATGT	0.592																																						uc022bzr.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(490-492)aaG>aaA		Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.							34.0	39.0	37.0					X																	89177576		2203	4296	6499	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177576G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.492G>A	X.37:g.89177576G>A						TGIF2LX_uc004efe.3_Silent_p.K164K	p.K164K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			0	492	+			164					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.492G>A	CCDS14459.1																																																																																				0.592	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960	
DIAPH2	1730	broad.mit.edu	37	X	96212894	96212894	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:96212894G>T	ENST00000324765.8	+	16	2029	c.1682G>T	c.(1681-1683)gGg>gTg	p.G561V	DIAPH2_ENST00000373061.3_Missense_Mutation_p.G561V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G557V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G561V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G561V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	561	FH1.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCAGGTGTAGGGCCGCCTCCA	0.537																																						uc004efu.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1681-1683)gGg>gTg		Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.							37.0	34.0	35.0					X																	96212894		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96212894G>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1682G>T	X.37:g.96212894G>T	ENSP00000321348:p.Gly561Val					DIAPH2_uc004eft.4_Missense_Mutation_p.G561V	p.G561V	NM_006729	NP_006720	O60879	DIAP2_HUMAN			15	2078	+			561			FH1.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1682G>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	8.633	0.894054	0.17613	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.38	1.15	0.20763	.	0.522971	0.17703	N	0.164872	T	0.71736	0.3375	M	0.81497	2.545	0.09310	N	0.999992	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.55418	-0.8144	10	0.14252	T	0.57	.	5.986	0.19434	0.0883:0.4304:0.3827:0.0985	.	561;561	O60879;O60879-2	DIAP2_HUMAN;.	V	561;557;561;561;561;568	ENSP00000362152:G561V;ENSP00000362145:G557V;ENSP00000348082:G561V;ENSP00000362140:G561V;ENSP00000321348:G561V	ENSP00000321348:G561V	G	+	2	0	DIAPH2	96099550	0.000000	0.05858	0.006000	0.13384	0.023000	0.10783	-0.351000	0.07711	0.104000	0.17725	-0.215000	0.12644	GGG		0.537	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
MAGEC2	51438	broad.mit.edu	37	X	141291061	141291061	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:141291061A>T	ENST00000247452.3	-	3	1060	c.713T>A	c.(712-714)tTc>tAc	p.F238Y		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	238	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTTATGAAGATCACACT	0.512										HNSCC(46;0.14)																												uc022cfj.1																			0		p.I237T(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(712-714)tTc>tAc		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							121.0	114.0	116.0					X																	141291061		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291061A>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.713T>A	X.37:g.141291061A>T	ENSP00000354660:p.Phe238Tyr	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.F238Y	p.F238Y	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	713	-	Acute lymphoblastic leukemia(192;6.56e-05)		238			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.713T>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	13.04	2.117870	0.37339	.	.	ENSG00000046774	ENST00000247452	T	0.06218	3.33	0.988	0.988	0.19796	.	0.130517	0.51477	U	0.000091	T	0.18257	0.0438	M	0.81239	2.535	0.09310	N	1	P	0.52577	0.954	D	0.66847	0.947	T	0.02431	-1.1160	10	0.87932	D	0	.	3.916	0.09224	1.0:0.0:0.0:0.0	.	238	Q9UBF1	MAGC2_HUMAN	Y	238	ENSP00000354660:F238Y	ENSP00000354660:F238Y	F	-	2	0	MAGEC2	141118727	0.880000	0.30214	0.025000	0.17156	0.058000	0.15608	2.181000	0.42547	0.635000	0.30488	0.235000	0.17854	TTC		0.512	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
MAGEA12	4111	broad.mit.edu	37	X	151900207	151900207	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:151900207C>A	ENST00000357916.4	-	2	749	c.594G>T	c.(592-594)aaG>aaT	p.K198N	MAGEA12_ENST00000393869.3_Missense_Mutation_p.K198N|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Missense_Mutation_p.K198N	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	198	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCCTGTCTTGGGCACGA	0.577																																						uc022chj.1																			0		p.K198*(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(592-594)aaG>aaT		Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.							149.0	143.0	145.0					X																	151900207		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900207C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.594G>T	X.37:g.151900207C>A	ENSP00000350592:p.Lys198Asn					MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.K198N|MAGEA12_uc022chi.1_Missense_Mutation_p.K198N|MAGEA12_uc004fgc.3_Missense_Mutation_p.K198N	p.K198N	NM_005367	NP_005358	P43365	MAGAC_HUMAN			0	594	-	Acute lymphoblastic leukemia(192;6.56e-05)		198			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.594G>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967563	0.18659	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05855	3.38;3.38;3.38	0.809	-0.253	0.12996	.	0.092704	0.64402	N	0.000001	T	0.28366	0.0701	H	0.96365	3.81	0.09310	N	1	D	0.71674	0.998	D	0.79784	0.993	T	0.13575	-1.0504	9	0.66056	D	0.02	.	.	.	.	.	198	P43365	MAGAC_HUMAN	N	198	ENSP00000350592:K198N;ENSP00000377447:K198N;ENSP00000377478:K198N	ENSP00000350592:K198N	K	-	3	2	MAGEA12	151650863	0.458000	0.25760	0.039000	0.18376	0.002000	0.02628	-0.504000	0.06375	-0.647000	0.05444	-1.111000	0.02071	AAG		0.577	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
SPRY3	10251	broad.mit.edu	37	X	155003952	155003952	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:155003952C>A	ENST00000302805.2	+	2	850	c.419C>A	c.(418-420)cCt>cAt	p.P140H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	140					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCAGGGCACCCTAGTGAGCAC	0.612																																						uc022cio.1																			0											c.(418-420)cCt>cAt		Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.							102.0	106.0	105.0					X																	155003952		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003952C>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.419C>A	X.37:g.155003952C>A	ENSP00000302978:p.Pro140His					SPRY3_uc004fnq.1_Missense_Mutation_p.P140H	p.P140H	NM_005840	NP_005831	O43610	SPY3_HUMAN			0	419	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		140					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.419C>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	C	1.295	-0.606561	0.03717	.	.	ENSG00000168939	ENST00000302805	T	0.55588	0.51	2.97	2.05	0.26809	.	1.506000	0.03973	N	0.291940	T	0.34395	0.0896	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	9	0.15952	T	0.53	-10.7714	6.5098	0.22216	0.2873:0.7127:0.0:0.0	.	140	O43610	SPY3_HUMAN	H	140	ENSP00000302978:P140H	ENSP00000302978:P140H	P	+	2	0	SPRY3	154657146	0.000000	0.05858	0.753000	0.31225	0.366000	0.29705	0.027000	0.13621	0.405000	0.25532	0.279000	0.19357	CCT		0.612	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840	
