#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IFT172	26160	broad.mit.edu	37	2	27680574	27680574	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:27680574C>T	ENST00000260570.3	-	29	3263	c.3160G>A	c.(3160-3162)Gag>Aag	p.E1054K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1054					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCTGGGCCTCGAGGTAGTGG	0.582																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3160-3162)Gag>Aag		intraflagellar transport 172 homolog (Chlamydomonas)							132.0	103.0	113.0					2																	27680574		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27680574C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3160G>A	2.37:g.27680574C>T	ENSP00000260570:p.Glu1054Lys						p.E1054K	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			29	3263	-	Acute lymphoblastic leukemia(172;0.155)		1054					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.3160G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468794	0.84533	.	.	ENSG00000138002	ENST00000260570	T	0.19532	2.14	6.08	5.21	0.72293	.	0.045054	0.85682	D	0.000000	T	0.22513	0.0543	L	0.58925	1.835	0.80722	D	1	P	0.46784	0.884	B	0.43082	0.407	T	0.03773	-1.1005	10	0.20519	T	0.43	-18.0468	10.668	0.45741	0.0:0.7949:0.1327:0.0724	.	1054	Q9UG01	IF172_HUMAN	K	1054	ENSP00000260570:E1054K	ENSP00000260570:E1054K	E	-	1	0	IFT172	27534078	0.992000	0.36948	0.957000	0.39632	0.985000	0.73830	3.043000	0.49823	1.580000	0.49851	0.655000	0.94253	GAG		0.582	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		21	30	0	0	0	1	0	21	30				
SCAMP5	192683	broad.mit.edu	37	15	75305126	75305126	+	Missense_Mutation	SNP	G	G	A	rs368193195		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:75305126G>A	ENST00000361900.6	+	4	323	c.116G>A	c.(115-117)cGc>cAc	p.R39H	SCAMP5_ENST00000545456.1_Silent_p.A20A|SCAMP5_ENST00000562212.1_Missense_Mutation_p.R39H|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Missense_Mutation_p.R39H	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	39					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATGACCAAGCGCCTCTACTAC	0.587																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(115-117)cGc>cAc		secretory carrier membrane protein 5		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4116		0,0,2058	86.0	86.0	86.0		116,116,116	4.8	1.0	15		86	1,8401		0,1,4200	no	missense,missense,missense	SCAMP5	NM_001178111.1,NM_001178112.1,NM_138967.3	29,29,29	0,1,6258	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging	39/236,39/236,39/236	75305126	1,12517	2058	4201	6259	SO:0001583	missense	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75305126G>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.116G>A	15.37:g.75305126G>A	ENSP00000355387:p.Arg39His					SCAMP5_ENST00000562212.1_Missense_Mutation_p.R39H|SCAMP5_ENST00000545456.1_Silent_p.A20A|SCAMP5_ENST00000425597.3_Missense_Mutation_p.R39H|SCAMP5_ENST00000565923.1_3'UTR	p.R39H	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			4	323	+			39					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	c.116G>A	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652741	0.67472	0.0	1.19E-4	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.17854	2.25;2.25	4.75	4.75	0.60458	.	0.206543	0.50627	D	0.000105	T	0.37812	0.1017	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.909;0.993	T	0.03095	-1.1073	10	0.33141	T	0.24	-21.7726	16.9678	0.86290	0.0:0.0:1.0:0.0	.	39;39	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	H	39	ENSP00000355387:R39H;ENSP00000406547:R39H	ENSP00000355387:R39H	R	+	2	0	SCAMP5	73092179	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.493000	0.97960	2.484000	0.83849	0.603000	0.83216	CGC		0.587	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		16	27	0	0	0	1	0	16	27				
UNC5C	8633	broad.mit.edu	37	4	96091364	96091364	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:96091364A>T	ENST00000453304.1	-	15	2919	c.2571T>A	c.(2569-2571)gaT>gaA	p.D857E		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	857	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGGGGGGCATCCAGGCTGC	0.597																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2569-2571)gaT>gaA		unc-5 homolog C (C. elegans)							139.0	139.0	139.0					4																	96091364		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091364A>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2571T>A	4.37:g.96091364A>T	ENSP00000406022:p.Asp857Glu						p.D857E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2919	-		Hepatocellular(203;0.114)	857			Death.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2571T>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546712	0.86022	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.25912	1.77	5.51	-2.64	0.06114	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.83692	2.655	0.80722	D	1	D	0.60160	0.987	D	0.75484	0.986	T	0.52102	-0.8620	10	0.87932	D	0	.	12.2708	0.54706	0.7591:0.0:0.2409:0.0	.	857	O95185	UNC5C_HUMAN	E	857;816	ENSP00000406022:D857E	ENSP00000328673:D816E	D	-	3	2	UNC5C	96310387	0.106000	0.21978	0.976000	0.42696	0.984000	0.73092	-0.301000	0.08232	-0.591000	0.05859	-0.385000	0.06624	GAT		0.597	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		83	139	0	0	0	1	0	83	139				
ARHGDIA	396	broad.mit.edu	37	17	79826815	79826815	+	Missense_Mutation	SNP	G	G	C	rs115573742	byFrequency	TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr17:79826815G>C	ENST00000269321.7	-	6	687	c.552C>G	c.(550-552)gaC>gaG	p.D184E	ARHGDIA_ENST00000541078.2_Missense_Mutation_p.D184E|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.D140E|ARHGDIA_ENST00000584461.1_Intron|RP11-498C9.3_ENST00000576554.1_RNA|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000581876.1_Missense_Mutation_p.D109E|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.D184E	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	184					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGGTCTTGTCGTCGTCTGTGA	0.642																																						ENST00000269321.7																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(550-552)gaC>gaG		Rho GDP dissociation inhibitor (GDI) alpha							106.0	91.0	96.0					17																	79826815		2203	4300	6503	SO:0001583	missense	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79826815G>C	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.552C>G	17.37:g.79826815G>C	ENSP00000269321:p.Asp184Glu					ARHGDIA_ENST00000580685.1_Missense_Mutation_p.D184E|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.D140E|ARHGDIA_ENST00000581876.1_Missense_Mutation_p.D109E|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.D184E|ARHGDIA_ENST00000584461.1_Intron	p.D184E	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	687	-	all_neural(118;0.0878)|Ovarian(332;0.12)		184					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Missense_Mutation	SNP	ENST00000269321.7	37	c.552C>G	CCDS11788.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625581	0.46840	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.44	-3.01	0.05463	Immunoglobulin E-set (1);	0.108378	0.64402	D	0.000011	T	0.78515	0.4295	M	0.91140	3.18	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.79215	-0.1895	9	0.59425	D	0.04	-32.0453	10.8294	0.46652	0.7754:0.0:0.2246:0.0	.	184	P52565	GDIR1_HUMAN	E	184;184;158	.	ENSP00000269321:D184E	D	-	3	2	ARHGDIA	77420104	0.079000	0.21365	0.396000	0.26296	0.003000	0.03518	-0.532000	0.06164	-0.365000	0.08076	-0.251000	0.11542	GAC		0.642	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		26	57	0	0	0	1	0	26	57				
CCDC8	83987	broad.mit.edu	37	19	46915423	46915423	+	Silent	SNP	C	C	G			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:46915423C>G	ENST00000307522.3	-	1	1418	c.645G>C	c.(643-645)ccG>ccC	p.P215P		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	215					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGCCCGCCCTCGGCGCCCAAC	0.711																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(643-645)ccG>ccC		coiled-coil domain containing 8							14.0	15.0	15.0					19																	46915423		2196	4287	6483	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915423C>G	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.645G>C	19.37:g.46915423C>G							p.P215P	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1418	-			215					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.645G>C	CCDS12685.1																																																																																				0.711	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		14	23	0	0	0	1	0	14	23				
RYR2	6262	broad.mit.edu	37	1	237777572	237777572	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:237777572C>T	ENST00000366574.2	+	37	5461	c.5144C>T	c.(5143-5145)gCc>gTc	p.A1715V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1699V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1713V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1715	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)			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)			AGCTCCTATGCCACTGCCAGG	0.512																																						ENST00000366574.2																			0				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.(5143-5145)gCc>gTc		ryanodine receptor 2 (cardiac)							60.0	60.0	60.0					1																	237777572		2159	4263	6422	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.chr1:237777572C>T	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.5144C>T	1.37:g.237777572C>T	ENSP00000355533:p.Ala1715Val					RYR2_ENST00000360064.6_Missense_Mutation_p.A1713V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1699V	p.A1715V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5461	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1715			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5144C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.982015	0.34942	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74106	-0.81;-0.81;-0.81	5.44	5.44	0.79542	.	0.086699	0.45867	D	0.000326	T	0.52837	0.1759	N	0.05050	-0.12	0.80722	D	1	B	0.19935	0.04	B	0.12837	0.008	T	0.51301	-0.8723	10	0.16896	T	0.51	.	14.1558	0.65417	0.1498:0.8502:0.0:0.0	.	1715	Q92736	RYR2_HUMAN	V	1715;1713;1699	ENSP00000355533:A1715V;ENSP00000353174:A1713V;ENSP00000443798:A1699V	ENSP00000353174:A1713V	A	+	2	0	RYR2	235844195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.038000	0.49783	2.567000	0.86603	0.655000	0.94253	GCC		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	33	0	0	0	1	0	3	33				
CYP2C9	1559	broad.mit.edu	37	10	96745813	96745813	+	Silent	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr10:96745813G>C	ENST00000260682.6	+	8	1185	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	391					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.L391L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TAATTTCCCTGACTTCTGTGC	0.383																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			1	Substitution - coding silent(1)	p.L391L(1)	lung(1)	breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1171-1173)ctG>ctC		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						145.0	133.0	137.0					10																	96745813		2203	4300	6503	SO:0001819	synonymous_variant	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96745813G>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1173G>C	10.37:g.96745813G>C							p.L391L	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	8	1185	+		Colorectal(252;0.0902)	391					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.1173G>C	CCDS7437.1																																																																																				0.383	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		6	63	0	0	0	1	0	6	63				
NXPH1	30010	broad.mit.edu	37	7	8791292	8791292	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr7:8791292G>A	ENST00000405863.1	+	3	1620	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	NXPH1_ENST00000602349.1_Missense_Mutation_p.V120M|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	237	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GCCCTTTAAGGTGATCTGTAT	0.433																																						ENST00000405863.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(709-711)Gtg>Atg		neurexophilin 1							37.0	33.0	34.0					7																	8791292		1872	4116	5988	SO:0001583	missense	30010					extracellular region		g.chr7:8791292G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.709G>A	7.37:g.8791292G>A	ENSP00000384551:p.Val237Met					NXPH1_ENST00000602349.1_Missense_Mutation_p.V120M|NXPH1_ENST00000497400.1_3'UTR	p.V237M	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1620	+		Ovarian(82;0.0628)	237			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.709G>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612719	0.66672	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76653	-0.2880	9	0.45353	T	0.12	-7.2976	19.6556	0.95837	0.0:0.0:1.0:0.0	.	237	P58417	NXPH1_HUMAN	M	237;120	.	ENSP00000384551:V237M	V	+	1	0	NXPH1	8757817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.623000	0.98386	2.882000	0.98803	0.655000	0.94253	GTG		0.433	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		16	16	0	0	0	1	0	16	16				
SEPT2	4735	broad.mit.edu	37	2	242265484	242265484	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:242265484G>A	ENST00000391973.2	+	3	614	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	SEPT2_ENST00000407971.1_5'UTR|SEPT2_ENST00000402092.2_Missense_Mutation_p.R29Q|SEPT2_ENST00000360051.3_Missense_Mutation_p.R29Q|SEPT2_ENST00000401990.1_Missense_Mutation_p.R29Q|SEPT2_ENST00000391971.2_Missense_Mutation_p.R29Q	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	29					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CAAGTTCACCGAAAATCAGTG	0.353																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(85-87)cGa>cAa		septin 2							80.0	78.0	79.0					2																	242265484		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242265484G>A	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.86G>A	2.37:g.242265484G>A	ENSP00000375834:p.Arg29Gln					SEPT2_ENST00000402092.2_Missense_Mutation_p.R29Q|SEPT2_ENST00000391971.2_Missense_Mutation_p.R29Q|SEPT2_ENST00000360051.3_Missense_Mutation_p.R29Q|SEPT2_ENST00000401990.1_Missense_Mutation_p.R29Q|SEPT2_ENST00000407971.1_5'UTR	p.R29Q	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	3	614	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	29					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.86G>A	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044701	0.97231	.	.	ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000428524;ENST00000445030;ENST00000391971;ENST00000401990;ENST00000436795;ENST00000411484;ENST00000434955;ENST00000402092;ENST00000441533;ENST00000437066;ENST00000420786;ENST00000391972;ENST00000449239	T;T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.90082	3.085	0.80722	D	1	D;P	0.76494	0.999;0.746	D;B	0.70016	0.967;0.185	T	0.74278	-0.3717	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	64;29	Q15019-2;Q15019	.;SEPT2_HUMAN	Q	29;29;29;29;29;29;29;40;29;29;29;29;29;64;29	ENSP00000375834:R29Q;ENSP00000353157:R29Q;ENSP00000404484:R29Q;ENSP00000375832:R29Q;ENSP00000385109:R29Q;ENSP00000406181:R29Q;ENSP00000394666:R40Q;ENSP00000399767:R29Q;ENSP00000385172:R29Q;ENSP00000413031:R29Q;ENSP00000412434:R29Q;ENSP00000409596:R29Q;ENSP00000391717:R29Q	ENSP00000353157:R29Q	R	+	2	0	SEPT2	241914157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.666000	0.98612	2.854000	0.98071	0.655000	0.94253	CGA		0.353	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		6	23	0	0	0	1	0	6	23				
SPACA4	171169	broad.mit.edu	37	19	49110400	49110400	+	Silent	SNP	G	G	T	rs201868880		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:49110400G>T	ENST00000321762.1	+	1	401	c.165G>T	c.(163-165)ccG>ccT	p.P55P	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	55	UPAR/Ly6 1.				cell adhesion (GO:0007155)	anchored component of membrane (GO:0031225)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGGTCGCCCCGGGCACTGGTC	0.627																																						ENST00000321762.1																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5						c.(163-165)ccG>ccT		sperm acrosome associated 4							54.0	52.0	53.0					19																	49110400		2203	4300	6503	SO:0001819	synonymous_variant	171169				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane		g.chr19:49110400G>T		CCDS12725.1	19q13.33	2013-10-24			ENSG00000177202	ENSG00000177202			16441	protein-coding gene	gene with protein product		609932					Standard	NM_133498		Approved	SAMP14	uc002pjo.3	Q8TDM5	OTTHUMG00000183316	ENST00000321762.1:c.165G>T	19.37:g.49110400G>T						FAM83E_ENST00000263266.3_Intron	p.P55P	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	401	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	55			UPAR/Ly6 1.			Silent	SNP	ENST00000321762.1	37	c.165G>T	CCDS12725.1																																																																																				0.627	SPACA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466149.1	NM_133498		27	58	1	0	2.79863e-10	1	2.85882e-10	27	58				
BTN2A1	11120	broad.mit.edu	37	6	26463495	26463495	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:26463495T>C	ENST00000312541.5	+	4	702	c.454T>C	c.(454-456)Tca>Cca	p.S152P	BTN2A1_ENST00000541522.1_Missense_Mutation_p.S91P|BTN2A1_ENST00000429381.1_Missense_Mutation_p.S152P|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S152P	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	152					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GCCCCTCATTTCAATGAGGGG	0.547																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(454-456)Tca>Cca		butyrophilin, subfamily 2, member A1							54.0	57.0	56.0					6																	26463495		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26463495T>C	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.454T>C	6.37:g.26463495T>C	ENSP00000312158:p.Ser152Pro					BTN2A1_ENST00000541522.1_Missense_Mutation_p.S91P|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S152P|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S152P	p.S152P			Q7KYR7	BT2A1_HUMAN			4	666	+			152					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.454T>C	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	t	4.798	0.148454	0.09134	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T;T	0.79352	-0.63;0.97;-1.26;-1.25	2.88	1.07	0.20283	.	0.473695	0.19665	N	0.108895	T	0.47135	0.1429	L	0.51422	1.61	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.11329	0.004;0.006	T	0.41197	-0.9522	10	0.41790	T	0.15	.	3.7266	0.08477	0.1263:0.0:0.4385:0.4352	.	152;152	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	P	152;91;152;152;152	ENSP00000312158:S152P;ENSP00000443909:S91P;ENSP00000416945:S152P;ENSP00000419043:S152P	ENSP00000265424:S152P	S	+	1	0	BTN2A1	26571474	0.001000	0.12720	0.442000	0.26870	0.004000	0.04260	0.237000	0.17985	0.263000	0.21812	-0.224000	0.12420	TCA		0.547	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		31	57	0	0	0	1	0	31	57				
CSMD1	64478	broad.mit.edu	37	8	2966208	2966208	+	Missense_Mutation	SNP	G	G	A	rs199914130		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:2966208G>A	ENST00000520002.1	-	45	7229	c.6674C>T	c.(6673-6675)aCg>aTg	p.T2225M	CSMD1_ENST00000537824.1_Missense_Mutation_p.T2224M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2225M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2224M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2225M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2225M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2225	CUB 13. {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)		GCTATACGCCGTTTCGAGGGC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		16007	0.0		0.001	False		,,,				2504	0.0					ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(6673-6675)aCg>aTg		CUB and Sushi multiple domains 1							84.0	84.0	84.0					8																	2966208		1932	4141	6073	SO:0001583	missense	64478					integral to membrane		g.chr8:2966208G>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.6674C>T	8.37:g.2966208G>A	ENSP00000430733:p.Thr2225Met					CSMD1_ENST00000602723.1_Missense_Mutation_p.T2225M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2225M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2224M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2224M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2225M	p.T2225M			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)	45	7229	-		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)	2225			CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6674C>T		.	.	.	.	.	.	.	.	.	.	G	11.28	1.591580	0.28357	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.8	4.8	0.61643	CUB (5);	0.073203	0.56097	D	0.000025	T	0.44561	0.1299	M	0.64170	1.965	0.80722	D	1	D;P;D	0.89917	1.0;0.615;1.0	D;B;D	0.87578	0.998;0.219;0.979	T	0.21008	-1.0258	10	0.32370	T	0.25	.	18.2142	0.89880	0.0:0.0:1.0:0.0	.	2225;2225;2224	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	M	2225;2225;2086;2224;2224	ENSP00000383047:T2225M;ENSP00000430733:T2225M;ENSP00000441462:T2224M;ENSP00000446243:T2224M	ENSP00000320445:T2086M	T	-	2	0	CSMD1	2953615	1.000000	0.71417	0.053000	0.19242	0.005000	0.04900	7.526000	0.81920	2.347000	0.79759	0.579000	0.79373	ACG		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	7	0	0	0	1	0	10	7				
NCF4	4689	broad.mit.edu	37	22	37272079	37272079	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr22:37272079C>T	ENST00000248899.6	+	9	951	c.767C>T	c.(766-768)gCg>gTg	p.A256V	NCF4_ENST00000397147.4_Missense_Mutation_p.R338W	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	256	OPR.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	AGGGACATCGCGGTGGAGGAA	0.607																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(1012-1014)Cgg>Tgg		neutrophil cytosolic factor 4, 40kDa																																				SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37272079C>T	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.767C>T	22.37:g.37272079C>T	ENSP00000248899:p.Ala256Val					NCF4_ENST00000248899.6_Missense_Mutation_p.A256V	p.R338W	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			8	1196	+			0					A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.1012C>T	CCDS13934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.063474|3.063474	0.55432|0.55432	.|.	.|.	ENSG00000100365|ENSG00000100365	ENST00000248899;ENST00000415063|ENST00000397147	T|T	0.39787|0.61510	1.06|0.1	5.05|5.05	5.05|5.05	0.67936|0.67936	Phox/Bem1p (2);|.	.|7739.210000	.|0.00166	.|N	.|0.000014	T|T	0.61974|0.61974	0.2390|0.2390	.|.	.|.	.|.	0.26180|0.26180	N|N	0.97974|0.97974	B|D	0.25743|0.63880	0.133|0.993	B|B	0.12837|0.44315	0.008|0.446	T|T	0.61997|0.61997	-0.6947|-0.6947	8|9	0.33940|0.66056	T|D	0.23|0.02	-5.9212|-5.9212	16.1705|16.1705	0.81812|0.81812	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	256|338	Q15080|A8K4F9	NCF4_HUMAN|.	V|W	256;201|338	ENSP00000248899:A256V|ENSP00000380334:R338W	ENSP00000248899:A256V|ENSP00000380334:R338W	A|R	+|+	2|1	0|2	NCF4|NCF4	35602025|35602025	0.501000|0.501000	0.26099|0.26099	0.944000|0.944000	0.38274|0.38274	0.121000|0.121000	0.20230|0.20230	3.294000|3.294000	0.51787|0.51787	2.352000|2.352000	0.79861|0.79861	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.607	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		11	19	0	0	0	1	0	11	19				
FFAR1	2864	broad.mit.edu	37	19	35842837	35842837	+	Missense_Mutation	SNP	C	C	T	rs199506594		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:35842837C>T	ENST00000246553.2	+	1	393	c.383C>T	c.(382-384)gCg>gTg	p.A128V		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	128					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GGGGTGTGCGCGGCCATCTGG	0.667																																						ENST00000246553.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(382-384)gCg>gTg		free fatty acid receptor 1	Icosapent(DB00159)						72.0	72.0	72.0					19																	35842837		2203	4300	6503	SO:0001583	missense	2864				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	g.chr19:35842837C>T	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.383C>T	19.37:g.35842837C>T	ENSP00000246553:p.Ala128Val						p.A128V	NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	393	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		128					Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	c.383C>T	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.976058	0.00452	.	.	ENSG00000126266	ENST00000246553	T	0.38077	1.16	4.23	-2.02	0.07388	GPCR, rhodopsin-like superfamily (1);	0.778565	0.10642	N	0.650883	T	0.11196	0.0273	N	0.01874	-0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.33979	-0.9847	10	0.02654	T	1	-1.8853	9.9347	0.41543	0.0:0.5236:0.0:0.4764	.	128	O14842	FFAR1_HUMAN	V	128	ENSP00000246553:A128V	ENSP00000246553:A128V	A	+	2	0	FFAR1	40534677	0.046000	0.20272	0.801000	0.32222	0.048000	0.14542	0.034000	0.13776	-0.829000	0.04268	-0.367000	0.07326	GCG		0.667	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		22	21	0	0	0	1	0	22	21				
IGHMBP2	3508	broad.mit.edu	37	11	68696716	68696716	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:68696716G>A	ENST00000255078.3	+	8	1237	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	376	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCATTGACGAGTGTGCCCA	0.652																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1126-1128)Gag>Aag		immunoglobulin mu binding protein 2							113.0	104.0	107.0					11																	68696716		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68696716G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1126G>A	11.37:g.68696716G>A	ENSP00000255078:p.Glu376Lys						p.E376K	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1237	+			376			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1126G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448319	0.84101	.	.	ENSG00000132740	ENST00000255078	D	0.98937	-5.25	4.98	4.98	0.66077	DEAD-like helicase (1);Helicase/UvrB domain (1);	0.120500	0.56097	D	0.000032	D	0.99483	0.9816	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98081	1.0404	10	0.87932	D	0	-19.0233	17.052	0.86521	0.0:0.0:1.0:0.0	.	376	P38935	SMBP2_HUMAN	K	376	ENSP00000255078:E376K	ENSP00000255078:E376K	E	+	1	0	IGHMBP2	68453292	1.000000	0.71417	0.924000	0.36721	0.241000	0.25554	9.333000	0.96459	2.310000	0.77875	0.655000	0.94253	GAG		0.652	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		10	405	0	0	0	1	0	10	405				
OR2G3	81469	broad.mit.edu	37	1	247769658	247769658	+	Silent	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:247769658C>T	ENST00000320002.2	+	1	803	c.771C>T	c.(769-771)taC>taT	p.Y257Y	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y257*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCATAATCTACGTGTACCTGC	0.473																																						ENST00000320002.2																			1	Substitution - Nonsense(1)	p.Y257*(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(769-771)taC>taT		olfactory receptor, family 2, subfamily G, member 3							103.0	97.0	99.0					1																	247769658		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769658C>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.771C>T	1.37:g.247769658C>T						RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.Y257Y	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	803	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		257					B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.771C>T	CCDS31093.1																																																																																				0.473	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			24	13	0	0	0	1	0	24	13				
SEMA7A	8482	broad.mit.edu	37	15	74704320	74704320	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:74704320C>T	ENST00000261918.4	-	11	1876	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E	SEMA7A_ENST00000542748.1_Missense_Mutation_p.G278E|SEMA7A_ENST00000543145.2_Missense_Mutation_p.G429E	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	443	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTCCTGCTCCCCCGGTTCCAC	0.632																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1327-1329)gGg>gAg		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							113.0	77.0	89.0					15																	74704320		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74704320C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1328G>A	15.37:g.74704320C>T	ENSP00000261918:p.Gly443Glu					SEMA7A_ENST00000543145.2_Missense_Mutation_p.G429E|SEMA7A_ENST00000542748.1_Missense_Mutation_p.G278E	p.G443E	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			11	1876	-			443			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1328G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	1.109	-0.658872	0.03454	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.09911	2.93;2.93;2.93	3.11	-1.35	0.09114	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.883987	0.09981	N	0.730950	T	0.05273	0.0140	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.43376	-0.9395	10	0.26408	T	0.33	-9.0048	0.3918	0.00412	0.3344:0.2832:0.1646:0.2178	.	429;443	F5H1S0;O75326	.;SEM7A_HUMAN	E	443;429;278	ENSP00000261918:G443E;ENSP00000438966:G429E;ENSP00000441493:G278E	ENSP00000261918:G443E	G	-	2	0	SEMA7A	72491373	0.000000	0.05858	0.006000	0.13384	0.023000	0.10783	-0.082000	0.11304	-0.263000	0.09378	0.491000	0.48974	GGG		0.632	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		30	45	0	0	0	1	0	30	45				
ZNF43	7594	broad.mit.edu	37	19	21990749	21990749	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:21990749T>C	ENST00000354959.4	-	4	2259	c.2090A>G	c.(2089-2091)aAg>aGg	p.K697R	ZNF43_ENST00000598381.1_Missense_Mutation_p.K691R|ZNF43_ENST00000594012.1_Missense_Mutation_p.K691R|ZNF43_ENST00000595461.1_Missense_Mutation_p.K691R	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	697					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGAATAATCTTATGTGTAGA	0.348																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(2071-2073)aAg>aGg		zinc finger protein 43							45.0	49.0	48.0					19																	21990749		2167	4281	6448	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990749T>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2090A>G	19.37:g.21990749T>C	ENSP00000347045:p.Lys697Arg					ZNF43_ENST00000595461.1_Missense_Mutation_p.K691R|ZNF43_ENST00000354959.4_Missense_Mutation_p.K697R|ZNF43_ENST00000598381.1_Missense_Mutation_p.K691R	p.K691R	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2586	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	697					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.2072A>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	8.627	0.892674	0.17613	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.07444	3.19	1.62	0.344	0.16006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	N	0.10707	0.03	0.09310	N	1	D	0.63046	0.992	D	0.68621	0.959	T	0.33879	-0.9851	9	0.33940	T	0.23	.	5.4772	0.16702	0.2485:0.0:0.0:0.7515	.	697	P17038	ZNF43_HUMAN	R	696;697	ENSP00000347045:K697R	ENSP00000347045:K697R	K	-	2	0	ZNF43	21782589	0.000000	0.05858	0.001000	0.08648	0.920000	0.55202	0.219000	0.17641	-0.145000	0.11294	0.254000	0.18369	AAG		0.348	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		18	38	0	0	0	1	0	18	38				
SEZ6L	23544	broad.mit.edu	37	22	26769434	26769434	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr22:26769434G>C	ENST00000248933.6	+	14	2907	c.2812G>C	c.(2812-2814)Gaa>Caa	p.E938Q	SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E938Q|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E711Q			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	938					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.E938K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGACAGTTTTGAACATGCTTT	0.323																																						ENST00000404234.3																			1	Substitution - Missense(1)	p.E938K(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2812-2814)Gaa>Caa		seizure related 6 homolog (mouse)-like							120.0	112.0	115.0					22																	26769434		2202	4299	6501	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26769434G>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2812G>C	22.37:g.26769434G>C	ENSP00000248933:p.Glu938Gln					SEZ6L_ENST00000402979.1_Missense_Mutation_p.E711Q|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E938Q	p.E938Q	NM_001184773.1|NM_021115.4	NP_001171702.1|NP_066938.2	Q9BYH1	SE6L1_HUMAN			14	3008	+			938					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2812G>C	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179629	0.38511	.	.	ENSG00000100095	ENST00000404234;ENST00000248933;ENST00000402979	T;T;T	0.23552	1.92;1.95;1.9	5.4	5.4	0.78164	.	0.106083	0.40640	N	0.001057	T	0.14270	0.0345	N	0.08118	0	0.80722	D	1	B;B	0.23442	0.085;0.085	B;B	0.17979	0.02;0.02	T	0.13176	-1.0519	10	0.19147	T	0.46	.	16.2687	0.82603	0.0:0.0:1.0:0.0	.	938;938	B0QYG3;Q9BYH1	.;SE6L1_HUMAN	Q	938;938;711	ENSP00000384772:E938Q;ENSP00000248933:E938Q;ENSP00000384733:E711Q	ENSP00000248933:E938Q	E	+	1	0	SEZ6L	25099434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.813000	0.69201	2.705000	0.92388	0.650000	0.86243	GAA		0.323	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			5	26	0	0	0	1	0	5	26				
CSNK1E	1454	broad.mit.edu	37	22	38710135	38710135	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr22:38710135G>A	ENST00000396832.1	-	2	288	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R10C|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R10C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R10C|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R10C|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R10C	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	10	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CGTCCCAGGCGGTACTTGTTC	0.617																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(28-30)Cgc>Tgc		casein kinase 1, epsilon							104.0	88.0	93.0					22																	38710135		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38710135G>A		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.28C>T	22.37:g.38710135G>A	ENSP00000380044:p.Arg10Cys					CSNK1E_ENST00000400206.2_Missense_Mutation_p.R10C|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R10C|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R10C|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R10C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R10C	p.R10C	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			2	288	-	Melanoma(58;0.045)		10			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.28C>T	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792431	0.90453	.	.	ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	4.81	3.73	0.42828	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	H	0.98218	4.175	0.80722	D	1	B;D;D	0.89917	0.013;1.0;1.0	B;D;D	0.73380	0.062;0.974;0.98	D	0.90660	0.4589	10	0.87932	D	0	.	12.2424	0.54551	0.0:0.0:0.8311:0.1689	.	10;10;10	B0QY35;B0QY34;P49674	.;.;KC1E_HUMAN	C	10	ENSP00000352929:R10C;ENSP00000380044:R10C;ENSP00000383067:R10C;ENSP00000384074:R10C;ENSP00000407235:R10C;ENSP00000384426:R10C;ENSP00000412335:R10C	ENSP00000352929:R10C	R	-	1	0	CSNK1E	37040081	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.460000	0.66691	2.383000	0.81215	0.561000	0.74099	CGC		0.617	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		29	28	0	0	0	1	0	29	28				
MAVS	57506	broad.mit.edu	37	20	3845128	3845128	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr20:3845128C>T	ENST00000428216.2	+	6	979	c.851C>T	c.(850-852)tCc>tTc	p.S284F	MAVS_ENST00000416600.2_Missense_Mutation_p.S143F|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	284					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ATCATCTGCTCCAGTGGGGCA	0.612																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(850-852)tCc>tTc		mitochondrial antiviral signaling protein							77.0	67.0	70.0					20																	3845128		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845128C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.851C>T	20.37:g.3845128C>T	ENSP00000401980:p.Ser284Phe					MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.S143F	p.S284F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	979	+			284					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.851C>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433528	0.43224	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.34859	1.34;2.35	4.02	1.99	0.26369	.	3.835670	0.00508	N	0.000163	T	0.48484	0.1502	L	0.38838	1.175	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.18681	-1.0329	10	0.41790	T	0.15	-2.8156	4.8856	0.13701	0.0:0.6535:0.2209:0.1256	.	284	Q7Z434	MAVS_HUMAN	F	143;284	ENSP00000413749:S143F;ENSP00000401980:S284F	ENSP00000413749:S143F	S	+	2	0	MAVS	3793128	0.001000	0.12720	0.002000	0.10522	0.380000	0.30137	0.542000	0.23222	0.428000	0.26173	-0.479000	0.04858	TCC		0.612	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		20	44	0	0	0	1	0	20	44				
GRM1	2911	broad.mit.edu	37	6	146351241	146351241	+	Silent	SNP	T	T	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:146351241T>C	ENST00000282753.1	+	1	823	c.588T>C	c.(586-588)acT>acC	p.T196T	GRM1_ENST00000392299.2_Silent_p.T196T|GRM1_ENST00000361719.2_Silent_p.T196T|GRM1_ENST00000492807.2_Silent_p.T196T|GRM1_ENST00000355289.4_Silent_p.T196T|GRM1_ENST00000507907.1_Silent_p.T196T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	196					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTGACAAAACTTTGTACAAAT	0.493																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(586-588)acT>acC		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						91.0	93.0	93.0					6																	146351241		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351241T>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.588T>C	6.37:g.146351241T>C						GRM1_ENST00000361719.2_Silent_p.T196T|GRM1_ENST00000355289.4_Silent_p.T196T|GRM1_ENST00000492807.2_Silent_p.T196T|GRM1_ENST00000282753.1_Silent_p.T196T|GRM1_ENST00000507907.1_Silent_p.T196T	p.T196T			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	1058	+		Ovarian(120;0.0387)	196					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.588T>C	CCDS5209.1																																																																																				0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		48	78	0	0	0	1	0	48	78				
LOC440040	440040	broad.mit.edu	37	11	49598177	49598177	+	RNA	SNP	T	T	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:49598177T>C	ENST00000527477.1	+	0	781																											GAGGGCTTGGTGTGCTCTGTG	0.522																																						ENST00000527477.1																			0																																																			440040							g.chr11:49598177T>C																													11.37:g.49598177T>C														0	781	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.522	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			6	22	0	0	0	1	0	6	22				
KDM5B	10765	broad.mit.edu	37	1	202742292	202742292	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:202742292C>T	ENST00000367265.3	-	4	1694	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R177Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	177	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTTGAGAATTCGTTCATAATG	0.443																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(529-531)cGa>cAa		lysine (K)-specific demethylase 5B							132.0	119.0	123.0					1																	202742292		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202742292C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.530G>A	1.37:g.202742292C>T	ENSP00000356234:p.Arg177Gln					KDM5B_ENST00000367264.2_Missense_Mutation_p.R177Q	p.R177Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			4	1694	-			177			ARID.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.530G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687766	0.96784	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;D	0.91521	-0.23;-0.23;-2.86	5.86	5.86	0.93980	ARID/BRIGHT DNA-binding domain (5);	0.111433	0.64402	D	0.000014	D	0.95478	0.8531	M	0.78916	2.43	0.54753	D	0.999987	P;D	0.71674	0.956;0.998	P;D	0.70935	0.587;0.971	D	0.95324	0.8423	10	0.87932	D	0	-10.5842	20.1903	0.98229	0.0:1.0:0.0:0.0	.	177;177	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Q	177;19;177;19	ENSP00000356234:R177Q;ENSP00000356233:R177Q;ENSP00000235790:R19Q	ENSP00000235790:R19Q	R	-	2	0	KDM5B	201008915	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	3.943000	0.56621	2.775000	0.95449	0.563000	0.77884	CGA		0.443	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		18	41	0	0	0	1	0	18	41				
CIT	11113	broad.mit.edu	37	12	120221731	120221731	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr12:120221731G>C	ENST00000261833.7	-	12	1578	c.1526C>G	c.(1525-1527)aCc>aGc	p.T509S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.T509S	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	509					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTGATGTAGGTAGCAAGGTC	0.552																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1525-1527)aCc>aGc		citron (rho-interacting, serine/threonine kinase 21)							251.0	224.0	233.0					12																	120221731		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120221731G>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1526C>G	12.37:g.120221731G>C	ENSP00000261833:p.Thr509Ser					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.T509S	p.T509S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	12	1581	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	509					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1526C>G	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.00|18.00	3.526433|3.526433	0.64860|0.64860	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63913	.|-0.06;-0.07	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63319|0.63319	0.2501|0.2501	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.60575	.|0.289;0.988;0.982	.|B;P;P	.|0.54889	.|0.074;0.675;0.763	T|T	0.54642|0.54642	-0.8263|-0.8263	5|10	.|0.15952	.|T	.|0.53	.|.	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|509;509;42	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	A|S	137|509	.|ENSP00000376306:T509S;ENSP00000261833:T509S	.|ENSP00000261833:T509S	P|T	-|-	1|2	0|0	CIT|CIT	118706114|118706114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.062000|8.062000	0.89475|0.89475	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.552	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		11	267	0	0	0	1	0	11	267				
XIRP2	129446	broad.mit.edu	37	2	168100817	168100817	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:168100817C>A	ENST00000409195.1	+	9	3004	c.2915C>A	c.(2914-2916)aCa>aAa	p.T972K	XIRP2_ENST00000295237.9_Missense_Mutation_p.T972K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T750K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	797					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGGAGTTACAAGAGGTGCT	0.358																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2914-2916)aCa>aAa		xin actin-binding repeat containing 2							53.0	49.0	50.0					2																	168100817		1849	4098	5947	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100817C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2915C>A	2.37:g.168100817C>A	ENSP00000386840:p.Thr972Lys					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T972K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T750K|XIRP2_ENST00000409728.1_Intron	p.T972K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	3004	+			797					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2915C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	7.785	0.710249	0.15239	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02606	4.23;4.23;4.23	6.08	4.3	0.51218	.	0.279202	0.40302	N	0.001125	T	0.05044	0.0135	L	0.50333	1.59	0.46437	D	0.999044	P;P;P	0.46327	0.804;0.876;0.876	B;P;P	0.45406	0.286;0.479;0.479	T	0.51482	-0.8700	10	0.31617	T	0.26	-11.3253	12.2508	0.54597	0.0:0.8154:0.1198:0.0648	.	797;797;750	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	972;972;750	ENSP00000386840:T972K;ENSP00000295237:T972K;ENSP00000387255:T750K	ENSP00000295237:T972K	T	+	2	0	XIRP2	167809063	0.034000	0.19679	0.982000	0.44146	0.514000	0.34195	1.476000	0.35420	0.913000	0.36797	-0.126000	0.14955	ACA		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		34	6	1	0	2.09667e-21	1	2.23801e-21	34	6				
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						ENST00000358970.5																			2	Substitution - Missense(2)	p.G487E(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member C							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu						p.G487E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1459	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	39	0	0	0	1	0	4	39				
LRRN1	57633	broad.mit.edu	37	3	3887743	3887743	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:3887743C>T	ENST00000319331.3	+	2	2179	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	473	Ig-like C2-type.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GAAACCCTTTCAGATAAATAC	0.438																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1417-1419)tCa>tTa		leucine rich repeat neuronal 1							77.0	86.0	83.0					3																	3887743		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887743C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1418C>T	3.37:g.3887743C>T	ENSP00000314901:p.Ser473Leu					SUMF1_ENST00000534863.1_Intron	p.S473L	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2179	+			473			Ig-like C2-type.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1418C>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885681	0.51908	.	.	ENSG00000175928	ENST00000319331	T	0.70045	-0.45	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.65975	2.015	0.58432	D	0.999994	P	0.44776	0.843	B	0.40659	0.336	T	0.63928	-0.6526	10	0.12766	T	0.61	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	473	Q6UXK5	LRRN1_HUMAN	L	473	ENSP00000314901:S473L	ENSP00000314901:S473L	S	+	2	0	LRRN1	3862743	1.000000	0.71417	0.629000	0.29254	0.989000	0.77384	6.030000	0.70903	2.741000	0.93983	0.650000	0.86243	TCA		0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		40	32	0	0	0	1	0	40	32				
WDR62	284403	broad.mit.edu	37	19	36572337	36572337	+	Silent	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:36572337G>A	ENST00000270301.7	+	10	1236	c.1236G>A	c.(1234-1236)gtG>gtA	p.V412V	WDR62_ENST00000401500.2_Silent_p.V412V|WDR62_ENST00000388999.3_Silent_p.V412V			O43379	WDR62_HUMAN	WD repeat domain 62	412					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACTGTAGGTGTATCCTGAGT	0.418																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(1234-1236)gtG>gtA		WD repeat domain 62							220.0	207.0	212.0					19																	36572337		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36572337G>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1236G>A	19.37:g.36572337G>A						WDR62_ENST00000270301.7_Silent_p.V412V|WDR62_ENST00000388999.3_Silent_p.V412V	p.V412V	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1271	+	Esophageal squamous(110;0.162)		412					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.1236G>A	CCDS33001.1																																																																																				0.418	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		40	39	0	0	0	1	0	40	39				
UBN2	254048	broad.mit.edu	37	7	138969205	138969205	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr7:138969205G>T	ENST00000473989.3	+	15	3554	c.3554G>T	c.(3553-3555)aGg>aTg	p.R1185M	UBN2_ENST00000288561.8_Missense_Mutation_p.R1102M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1185	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGAGCTAATAGGACTAGTCTG	0.493																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3304-3306)aGg>aTg		ubinuclein 2							74.0	76.0	75.0					7																	138969205		1976	4161	6137	SO:0001583	missense	254048							g.chr7:138969205G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3554G>T	7.37:g.138969205G>T	ENSP00000418648:p.Arg1185Met					UBN2_ENST00000473989.2_Missense_Mutation_p.R1185M	p.R1102M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3554	+			1185			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3305G>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676906	0.67928	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36520	1.25;1.35	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.40543	1.245	0.58432	D	0.999991	D	0.67145	0.996	D	0.74023	0.982	T	0.49476	-0.8936	10	0.52906	T	0.07	-13.2631	20.0585	0.97663	0.0:0.0:1.0:0.0	.	1185	Q6ZU65	UBN2_HUMAN	M	1185;1102	ENSP00000418648:R1185M;ENSP00000288561:R1102M	ENSP00000288561:R1102M	R	+	2	0	UBN2	138619745	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.722000	0.74735	2.812000	0.96745	0.557000	0.71058	AGG		0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		10	51	1	0	0.00621372	1	0.00627982	10	51				
CAD	790	broad.mit.edu	37	2	27448088	27448088	+	Missense_Mutation	SNP	G	G	A	rs575934358		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:27448088G>A	ENST00000403525.1	+	11	1741	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	CAD_ENST00000264705.4_Missense_Mutation_p.E533K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCCGAGCGAGGCAGCAAA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		16817	0.0		0.0	False		,,,				2504	0.001					ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1597-1599)Gag>Aag		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						25.0	25.0	25.0					2																	27448088		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27448088G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1597G>A	2.37:g.27448088G>A	ENSP00000384510:p.Glu533Lys					CAD_ENST00000403525.1_Missense_Mutation_p.E533K	p.E533K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			11	1759	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		533			ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1597G>A		.	.	.	.	.	.	.	.	.	.	G	14.82	2.650199	0.47362	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97041	-4.22;-4.22	5.48	4.6	0.57074	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.146212	0.64402	D	0.000009	D	0.90618	0.7058	N	0.16862	0.45	0.50313	D	0.999862	B;P	0.34724	0.249;0.465	B;B	0.23150	0.044;0.033	D	0.88412	0.3022	10	0.25751	T	0.34	-3.5945	10.1987	0.43071	0.1633:0.0:0.8367:0.0	.	533;533	F8VPD4;P27708	.;PYR1_HUMAN	K	533	ENSP00000264705:E533K;ENSP00000384510:E533K	ENSP00000264705:E533K	E	+	1	0	CAD	27301592	1.000000	0.71417	0.928000	0.36995	0.969000	0.65631	5.771000	0.68881	1.294000	0.44707	0.462000	0.41574	GAG		0.493	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			8	28	0	0	0	1	0	8	28				
SEL1L3	23231	broad.mit.edu	37	4	25849151	25849151	+	Silent	SNP	G	G	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:25849151G>T	ENST00000399878.3	-	2	620	c.498C>A	c.(496-498)atC>atA	p.I166I	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.I131I|SEL1L3_ENST00000502949.1_Silent_p.I13I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	166						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CAGATACAGAGATGGAATGTC	0.403																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(496-498)atC>atA		sel-1 suppressor of lin-12-like 3 (C. elegans)							72.0	65.0	68.0					4																	25849151		1890	4129	6019	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25849151G>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.498C>A	4.37:g.25849151G>T						SEL1L3_ENST00000264868.5_Silent_p.I131I|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000502949.1_Silent_p.I13I	p.I166I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			2	620	-			166					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	c.498C>A	CCDS47037.1																																																																																				0.403	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		12	16	1	0	5.16669e-11	1	5.33517e-11	12	16				
CASC5	57082	broad.mit.edu	37	15	40913774	40913774	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:40913774G>A	ENST00000346991.5	+	11	1780	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.E438K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	464	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGATGCCATGGAAATGACCAA	0.348																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1390-1392)Gaa>Aaa		cancer susceptibility candidate 5							83.0	81.0	81.0					15																	40913774		1817	4080	5897	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40913774G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1390G>A	15.37:g.40913774G>A	ENSP00000335463:p.Glu464Lys					CASC5_ENST00000399668.2_Missense_Mutation_p.E438K|CASC5_ENST00000527044.1_3'UTR	p.E464K			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	1780	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	464			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.1390G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538208	0.85917	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.09723	2.95;2.97	5.82	5.82	0.92795	.	0.269699	0.30890	N	0.008673	T	0.33440	0.0863	M	0.71036	2.16	0.40030	D	0.97552	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63113	0.911;0.911;0.911	T	0.01814	-1.1268	10	0.72032	D	0.01	.	20.104	0.97884	0.0:0.0:1.0:0.0	.	438;464;438	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	K	464;438;438	ENSP00000335463:E464K;ENSP00000382576:E438K	ENSP00000260369:E438K	E	+	1	0	CASC5	38701066	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.774000	0.75012	2.741000	0.93983	0.557000	0.71058	GAA		0.348	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		32	48	0	0	0	1	0	32	48				
A4GNT	51146	broad.mit.edu	37	3	137843680	137843680	+	Missense_Mutation	SNP	G	G	A	rs375267880		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:137843680G>A	ENST00000236709.3	-	3	650	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	150					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGATGCATCCGAGCTGATGTG	0.567																																						ENST00000236709.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(448-450)tCg>tTg		alpha-1,4-N-acetylglucosaminyltransferase		G	LEU/SER	0,4406		0,0,2203	73.0	70.0	71.0		449	5.3	1.0	3		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	A4GNT	NM_016161.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	150/341	137843680	1,13005	2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843680G>A	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.449C>T	3.37:g.137843680G>A	ENSP00000236709:p.Ser150Leu						p.S150L	NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN			3	650	-			150					Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.449C>T	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965365	0.74131	0.0	1.16E-4	ENSG00000118017	ENST00000236709	D	0.89810	-2.57	5.27	5.27	0.74061	Glycosyltransferase, DXD sugar-binding motif (1);	0.000000	0.64402	D	0.000016	D	0.96247	0.8776	H	0.94183	3.505	0.48830	D	0.999719	D	0.89917	1.0	D	0.76071	0.987	D	0.97300	0.9930	10	0.87932	D	0	-17.0267	18.8974	0.92429	0.0:0.0:1.0:0.0	.	150	Q9UNA3	A4GCT_HUMAN	L	150	ENSP00000236709:S150L	ENSP00000236709:S150L	S	-	2	0	A4GNT	139326370	1.000000	0.71417	0.953000	0.39169	0.420000	0.31355	6.704000	0.74639	2.458000	0.83093	0.563000	0.77884	TCG		0.567	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		32	41	0	0	0	1	0	32	41				
GBP5	115362	broad.mit.edu	37	1	89735197	89735197	+	Missense_Mutation	SNP	G	G	C	rs372467199		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:89735197G>C	ENST00000370459.3	-	2	169	c.42C>G	c.(40-42)atC>atG	p.I14M	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.I14M			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	14	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.I14I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAAAGTTCTCGATGAGGCACA	0.478																																						ENST00000343435.5																			1	Substitution - coding silent(1)	p.I14I(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(40-42)atC>atG		guanylate binding protein 5							224.0	211.0	216.0					1																	89735197		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89735197G>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.42C>G	1.37:g.89735197G>C	ENSP00000359488:p.Ile14Met					GBP5_ENST00000370459.3_Missense_Mutation_p.I14M|RP4-620F22.2_ENST00000437128.1_RNA	p.I14M	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	3	578	-			14					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.42C>G	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021589	0.35701	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.64803	-0.12;-0.12;-0.12	5.0	-1.36	0.09085	.	0.112845	0.56097	D	0.000022	T	0.69717	0.3142	M	0.93808	3.46	0.24930	N	0.991921	D	0.89917	1.0	D	0.80764	0.994	T	0.62348	-0.6873	10	0.87932	D	0	-17.9691	5.4859	0.16749	0.4389:0.0:0.4174:0.1437	.	14	Q96PP8	GBP5_HUMAN	M	14	ENSP00000340396:I14M;ENSP00000359488:I14M;ENSP00000403010:I14M	ENSP00000340396:I14M	I	-	3	3	GBP5	89507785	0.094000	0.21725	0.975000	0.42487	0.049000	0.14656	-1.031000	0.03578	-0.314000	0.08716	-1.004000	0.02495	ATC		0.478	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		44	113	0	0	0	1	0	44	113				
AMIGO1	57463	broad.mit.edu	37	1	110051072	110051072	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:110051072C>T	ENST00000369864.4	-	2	812	c.463G>A	c.(463-465)Gat>Aat	p.D155N	AMIGO1_ENST00000369862.1_Missense_Mutation_p.D155N					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCCATGTCATCGAAGGCGCAC	0.542																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(463-465)Gat>Aat		adhesion molecule with Ig-like domain 1							109.0	108.0	109.0					1																	110051072		2203	4300	6503	SO:0001583	missense	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110051072C>T		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.463G>A	1.37:g.110051072C>T	ENSP00000358880:p.Asp155Asn					AMIGO1_ENST00000369862.1_Missense_Mutation_p.D155N	p.D155N			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	812	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	155						Missense_Mutation	SNP	ENST00000369864.4	37	c.463G>A	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560924	0.27827	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.57595	0.39;0.39	5.84	5.84	0.93424	.	0.665352	0.13532	N	0.380885	T	0.30230	0.0758	L	0.52905	1.665	0.34286	D	0.682734	P	0.36483	0.555	B	0.24541	0.054	T	0.32640	-0.9899	10	0.13853	T	0.58	-5.3511	18.9096	0.92477	0.0:1.0:0.0:0.0	.	155	Q86WK6	AMGO1_HUMAN	N	155	ENSP00000358880:D155N;ENSP00000358878:D155N	ENSP00000358878:D155N	D	-	1	0	AMIGO1	109852595	0.029000	0.19370	0.424000	0.26647	0.901000	0.52897	2.516000	0.45520	2.763000	0.94921	0.650000	0.86243	GAT		0.542	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		51	73	0	0	0	1	0	51	73				
P2RY13	53829	broad.mit.edu	37	3	151046793	151046793	+	Silent	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:151046793C>T	ENST00000325602.5	-	2	70	c.51G>A	c.(49-51)gtG>gtA	p.V17V	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	17					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CTTCCAGTGTCACCTGTTACC	0.393																																						ENST00000325602.5																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(49-51)gtG>gtA		purinergic receptor P2Y, G-protein coupled, 13							75.0	71.0	72.0					3																	151046793		2203	4300	6503	SO:0001819	synonymous_variant	53829					integral to membrane|plasma membrane		g.chr3:151046793C>T	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.51G>A	3.37:g.151046793C>T						MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.V17V	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	70	-			17					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Silent	SNP	ENST00000325602.5	37	c.51G>A	CCDS3158.2																																																																																				0.393	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		43	77	0	0	0	1	0	43	77				
MEP1B	4225	broad.mit.edu	37	18	29793102	29793102	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr18:29793102C>T	ENST00000269202.6	+	11	1206	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	MEP1B_ENST00000581447.1_Missense_Mutation_p.L387F	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	387	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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						GAGCTGGCAACTTTATCATGT	0.393																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1159-1161)Ctt>Ttt		meprin A, beta							83.0	78.0	79.0					18																	29793102		1910	4131	6041	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29793102C>T	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.1159C>T	18.37:g.29793102C>T	ENSP00000269202:p.Leu387Phe					MEP1B_ENST00000581447.1_Missense_Mutation_p.L387F	p.L387F	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			11	1206	+			387			MAM.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.1159C>T	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087006	0.55861	.	.	ENSG00000141434	ENST00000269202	T	0.02258	4.37	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.057520	0.64402	D	0.000001	T	0.15652	0.0377	M	0.88570	2.965	0.50813	D	0.999892	D	0.89917	1.0	D	0.97110	1.0	T	0.00036	-1.2253	10	0.72032	D	0.01	-21.7071	14.0981	0.65037	0.0:0.9279:0.0:0.072	.	387	Q16820	MEP1B_HUMAN	F	387	ENSP00000269202:L387F	ENSP00000269202:L387F	L	+	1	0	MEP1B	28047100	1.000000	0.71417	0.996000	0.52242	0.371000	0.29859	4.558000	0.60789	2.711000	0.92665	0.467000	0.42956	CTT		0.393	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		20	19	0	0	0	1	0	20	19				
C6orf165	154313	broad.mit.edu	37	6	88119576	88119576	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:88119576G>A	ENST00000507897.1	+	2	102	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E7K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	7										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AACTCAGGCCGAAAGTGTTAT	0.333																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(19-21)Gaa>Aaa		chromosome 6 open reading frame 165							116.0	119.0	118.0					6																	88119576		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88119576G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.19G>A	6.37:g.88119576G>A	ENSP00000426769:p.Glu7Lys					C6ORF165_ENST00000369562.4_Missense_Mutation_p.E7K	p.E7K			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	2	102	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	7					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.19G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408718	0.96072	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.40225	1.04;1.04	5.39	5.39	0.77823	.	0.096875	0.64402	D	0.000002	T	0.57989	0.2091	M	0.81239	2.535	0.58432	D	0.999997	D;D	0.71674	0.995;0.998	P;P	0.58660	0.743;0.843	T	0.63695	-0.6579	10	0.72032	D	0.01	.	19.1063	0.93296	0.0:0.0:1.0:0.0	.	7;7	Q8IYR0;E1P509	CF165_HUMAN;.	K	7	ENSP00000358575:E7K;ENSP00000422494:E7K	ENSP00000358575:E7K	E	+	1	0	C6orf165	88176295	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.814000	0.62627	2.671000	0.90904	0.655000	0.94253	GAA		0.333	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		19	38	0	0	0	1	0	19	38				
L3MBTL3	84456	broad.mit.edu	37	6	130376371	130376371	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:130376371G>C	ENST00000529410.1	+	10	1117	c.638G>C	c.(637-639)aGa>aCa	p.R213T	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R188T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R213T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R188T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R213T|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R188T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	213					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CGGAGGAAAAGACGAGGGGAT	0.383																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(637-639)aGa>aCa		l(3)mbt-like 3 (Drosophila)							106.0	113.0	111.0					6																	130376371		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130376371G>C	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.638G>C	6.37:g.130376371G>C	ENSP00000431962:p.Arg213Thr					L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R213T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R188T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R188T|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R188T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R213T	p.R213T			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	10	1117	+			213					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.638G>C	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021213	0.75275	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46	5.39	5.39	0.77823	.	0.344840	0.30383	N	0.009743	T	0.20780	0.0500	L	0.36672	1.1	0.53688	D	0.999972	D;P	0.67145	0.996;0.756	D;B	0.77557	0.99;0.25	T	0.02257	-1.1187	10	0.18276	T	0.48	.	17.346	0.87309	0.0:0.0:1.0:0.0	.	188;213	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	T	213;188;213;188;188;213	ENSP00000431962:R213T;ENSP00000437185:R188T;ENSP00000354526:R213T;ENSP00000357121:R188T;ENSP00000436706:R188T;ENSP00000357118:R213T	ENSP00000354526:R213T	R	+	2	0	L3MBTL3	130418064	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	5.905000	0.69893	2.703000	0.92315	0.447000	0.29281	AGA		0.383	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		9	38	0	0	0	1	0	9	38				
CTCF	10664	broad.mit.edu	37	16	67650756	67650756	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr16:67650756C>T	ENST00000264010.4	+	5	1505	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Missense_Mutation_p.S26F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	354					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S354F(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAAGTGTTCCATGTGCGAT	0.453																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			1	Substitution - Missense(1)	p.S354F(1)	endometrium(1)	breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1060-1062)tCc>tTc		CCCTC-binding factor (zinc finger protein)							326.0	268.0	288.0					16																	67650756		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650756C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1061C>T	16.37:g.67650756C>T	ENSP00000264010:p.Ser354Phe					CTCF_ENST00000401394.1_Missense_Mutation_p.S26F	p.S354F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1505	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	354					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1061C>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948620	0.73787	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.19669	2.13;2.13	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.089414	0.48767	N	0.000163	T	0.43055	0.1230	L	0.50919	1.6	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.30534	-0.9975	10	0.87932	D	0	.	18.5993	0.91242	0.0:1.0:0.0:0.0	.	354	P49711	CTCF_HUMAN	F	354;26	ENSP00000264010:S354F;ENSP00000384707:S26F	ENSP00000264010:S354F	S	+	2	0	CTCF	66208257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.622000	0.88805	0.650000	0.86243	TCC		0.453	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		95	156	0	0	0	1	0	95	156				
DAPK1	1612	broad.mit.edu	37	9	90321664	90321664	+	Silent	SNP	G	G	A	rs202069940		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr9:90321664G>A	ENST00000408954.3	+	26	4013	c.3678G>A	c.(3676-3678)acG>acA	p.T1226T	DAPK1_ENST00000469640.2_Silent_p.T1251T|DAPK1_ENST00000358077.5_Silent_p.T1226T|DAPK1_ENST00000491893.1_Silent_p.T1160T|DAPK1_ENST00000472284.1_Silent_p.T1226T	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1226					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T1226T(2)|p.T1227T(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGGCCACCACGCTGCCAGGGC	0.627									Chronic Lymphocytic Leukemia, Familial Clustering of				G|||	1	0.000199681	0.0008	0.0	5008	,	,		18160	0.0		0.0	False		,,,				2504	0.0					ENST00000469640.2																			4	Substitution - coding silent(4)	p.T1226T(2)|p.T1227T(2)	large_intestine(2)|lung(2)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3751-3753)acG>acA		death-associated protein kinase 1							32.0	37.0	35.0					9																	90321664		2173	4278	6451	SO:0001819	synonymous_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321664G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3678G>A	9.37:g.90321664G>A						DAPK1_ENST00000472284.1_Silent_p.T1226T|DAPK1_ENST00000408954.3_Silent_p.T1226T|DAPK1_ENST00000358077.5_Silent_p.T1226T|DAPK1_ENST00000491893.1_Silent_p.T1160T	p.T1251T			P53355	DAPK1_HUMAN			27	4128	+			1226					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.3753G>A	CCDS43842.1																																																																																				0.627	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		6	20	0	0	0	1	0	6	20				
DNMT1	1786	broad.mit.edu	37	19	10270532	10270532	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:10270532G>A	ENST00000340748.4	-	15	1343	c.1108C>T	c.(1108-1110)Cac>Tac	p.H370Y	DNMT1_ENST00000359526.4_Missense_Mutation_p.H386Y|DNMT1_ENST00000540357.1_Missense_Mutation_p.H370Y			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	370	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCTGGTGGGTGCTGCCCATAT	0.602																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1108-1110)Cac>Tac		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						230.0	209.0	216.0					19																	10270532		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10270532G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1108C>T	19.37:g.10270532G>A	ENSP00000345739:p.His370Tyr					DNMT1_ENST00000359526.4_Missense_Mutation_p.H386Y|DNMT1_ENST00000540357.1_Missense_Mutation_p.H370Y	p.H370Y			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		15	1343	-			370			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.1108C>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536865	0.45176	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23552	1.9;1.9;1.91	4.9	3.79	0.43588	.	0.172222	0.50627	D	0.000116	T	0.29588	0.0738	L	0.53249	1.67	0.38509	D	0.948436	P;P;B	0.40360	0.473;0.714;0.342	P;B;B	0.45195	0.473;0.357;0.281	T	0.04551	-1.0943	10	0.35671	T	0.21	.	11.8615	0.52469	0.0:0.3197:0.6803:0.0	.	370;386;370	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	Y	386;370;370;238	ENSP00000352516:H386Y;ENSP00000440457:H370Y;ENSP00000345739:H370Y	ENSP00000345739:H370Y	H	-	1	0	DNMT1	10131532	0.976000	0.34144	0.075000	0.20258	0.017000	0.09413	2.267000	0.43329	2.712000	0.92718	0.557000	0.71058	CAC		0.602	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		8	229	0	0	0	1	0	8	229				
SLC9A2	6549	broad.mit.edu	37	2	103321010	103321010	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:103321010C>T	ENST00000233969.2	+	10	1995	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	618					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGACTTTATCCTACAACAGA	0.418																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1852-1854)tCc>tTc		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							66.0	65.0	65.0					2																	103321010		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103321010C>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1853C>T	2.37:g.103321010C>T	ENSP00000233969:p.Ser618Phe						p.S618F	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			10	1995	+			618					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1853C>T	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218223	0.79464	.	.	ENSG00000115616	ENST00000233969	T	0.53640	0.61	5.16	5.16	0.70880	.	0.184499	0.49916	D	0.000132	T	0.67832	0.2935	M	0.78916	2.43	0.52501	D	0.999956	D	0.67145	0.996	P	0.59703	0.862	T	0.72855	-0.4166	10	0.87932	D	0	.	19.0009	0.92834	0.0:1.0:0.0:0.0	.	618	Q9UBY0	SL9A2_HUMAN	F	618	ENSP00000233969:S618F	ENSP00000233969:S618F	S	+	2	0	SLC9A2	102687442	1.000000	0.71417	0.963000	0.40424	0.883000	0.51084	5.695000	0.68279	2.547000	0.85894	0.591000	0.81541	TCC		0.418	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			16	47	0	0	0	1	0	16	47				
TMEM109	79073	broad.mit.edu	37	11	60688430	60688430	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:60688430G>A	ENST00000227525.3	+	3	713	c.310G>A	c.(310-312)Gca>Aca	p.A104T	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.A104T	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	104					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TGGGATCGCCGCACAGCTGCT	0.537																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(310-312)Gca>Aca		transmembrane protein 109							241.0	201.0	215.0					11																	60688430		2203	4299	6502	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60688430G>A		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.310G>A	11.37:g.60688430G>A	ENSP00000227525:p.Ala104Thr					TMEM109_ENST00000536171.1_Missense_Mutation_p.A104T|RP11-881M11.4_ENST00000543907.1_RNA	p.A104T	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN			3	713	+			104						Missense_Mutation	SNP	ENST00000227525.3	37	c.310G>A	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985563	0.53934	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000540407;ENST00000536171	.	.	.	5.91	5.0	0.66597	.	0.073970	0.56097	D	0.000035	T	0.42381	0.1200	M	0.61703	1.905	0.18873	N	0.999989	B	0.28439	0.212	B	0.20384	0.029	T	0.28618	-1.0038	9	0.24483	T	0.36	-42.4042	11.988	0.53159	0.0802:0.0:0.9198:0.0	.	104	Q9BVC6	TM109_HUMAN	T	104;104;26;104	.	ENSP00000227525:A104T	A	+	1	0	TMEM109	60445006	0.934000	0.31675	0.062000	0.19696	0.108000	0.19459	4.874000	0.63064	1.516000	0.48900	0.655000	0.94253	GCA		0.537	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		5	126	0	0	0	1	0	5	126				
LIPN	643418	broad.mit.edu	37	10	90528636	90528636	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr10:90528636C>T	ENST00000404459.1	+	5	623	c.623C>T	c.(622-624)cCc>cTc	p.P208L		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	208					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TTCAAATATCCCACGGGCATT	0.403																																						ENST00000404459.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9						c.(622-624)cCc>cTc		lipase, family member N							109.0	102.0	105.0					10																	90528636		1812	4068	5880	SO:0001583	missense	643418				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90528636C>T		CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.623C>T	10.37:g.90528636C>T	ENSP00000383923:p.Pro208Leu						p.P208L	NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)	5	623	+		Colorectal(252;0.0161)	208					A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	c.623C>T	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.754044	0.31046	.	.	ENSG00000204020	ENST00000404459	T	0.70164	-0.46	4.6	4.6	0.57074	Alpha/beta hydrolase fold-1 (1);	0.116985	0.38897	N	0.001523	T	0.45337	0.1337	N	0.12422	0.21	0.43647	D	0.996059	B	0.22800	0.075	B	0.25759	0.063	T	0.40308	-0.9570	10	0.05959	T	0.93	-8.5872	14.4421	0.67325	0.0:1.0:0.0:0.0	.	208	Q5VXI9	LIPN_HUMAN	L	208	ENSP00000383923:P208L	ENSP00000383923:P208L	P	+	2	0	LIPN	90518616	0.971000	0.33674	0.999000	0.59377	0.944000	0.59088	4.854000	0.62918	2.374000	0.81015	0.585000	0.79938	CCC		0.403	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		9	9	0	0	0	1	0	9	9				
ETS2	2114	broad.mit.edu	37	21	40181971	40181971	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr21:40181971G>A	ENST00000360214.3	+	3	473	c.13G>A	c.(13-15)Gga>Aga	p.G5R	ETS2_ENST00000360938.3_Missense_Mutation_p.G5R	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	5					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GAATGATTTCGGAATCAAGAA	0.373																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(13-15)Gga>Aga		v-ets avian erythroblastosis virus E26 oncogene homolog 2							41.0	46.0	44.0					21																	40181971		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40181971G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.13G>A	21.37:g.40181971G>A	ENSP00000353344:p.Gly5Arg					ETS2_ENST00000360938.3_Missense_Mutation_p.G5R	p.G5R	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			3	473	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	5					A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.13G>A	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873005	0.91664	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.52526	2.46;2.46;0.66;1.13	5.83	5.83	0.93111	.	0.295626	0.31404	N	0.007703	T	0.59838	0.2223	L	0.28274	0.84	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.948	T	0.62455	-0.6851	10	0.87932	D	0	.	19.7363	0.96205	0.0:0.0:1.0:0.0	.	5;5	P15036;C9JAG2	ETS2_HUMAN;.	R	5	ENSP00000353344:G5R;ENSP00000354194:G5R;ENSP00000401273:G5R;ENSP00000411086:G5R	ENSP00000353344:G5R	G	+	1	0	ETS2	39103841	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.540000	0.73861	2.767000	0.95098	0.655000	0.94253	GGA		0.373	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			4	16	0	0	0	1	0	4	16				
OSGIN2	734	broad.mit.edu	37	8	90937310	90937310	+	Silent	SNP	C	C	G			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:90937310C>G	ENST00000297438.2	+	6	1423	c.1068C>G	c.(1066-1068)gtC>gtG	p.V356V	OSGIN2_ENST00000451899.2_Silent_p.V400V	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	356					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCATAAAGTCTATCATATGA	0.383																																						ENST00000451899.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(1198-1200)gtC>gtG		oxidative stress induced growth inhibitor family member 2							103.0	108.0	106.0					8																	90937310		2203	4300	6503	SO:0001819	synonymous_variant	734				germ cell development|meiosis			g.chr8:90937310C>G	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1068C>G	8.37:g.90937310C>G						OSGIN2_ENST00000297438.2_Silent_p.V356V	p.V400V	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		6	1460	+			356						Silent	SNP	ENST00000297438.2	37	c.1200C>G	CCDS6248.1																																																																																				0.383	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		35	102	0	0	0	1	0	35	102				
FER1L6	654463	broad.mit.edu	37	8	125033801	125033801	+	Silent	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:125033801C>T	ENST00000522917.1	+	17	2231	c.2025C>T	c.(2023-2025)tgC>tgT	p.C675C	FER1L6_ENST00000399018.1_Silent_p.C675C|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	675						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCAATGTGCAAGGAGGCCA	0.453																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2023-2025)tgC>tgT		fer-1-like 6 (C. elegans)							141.0	142.0	142.0					8																	125033801		2023	4186	6209	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125033801C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2025C>T	8.37:g.125033801C>T						FER1L6_ENST00000399018.1_Silent_p.C675C|FER1L6-AS1_ENST00000518567.1_RNA	p.C675C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		17	2231	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		675						Silent	SNP	ENST00000522917.1	37	c.2025C>T	CCDS43767.1																																																																																				0.453	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		39	173	0	0	0	1	0	39	173				
METTL3	56339	broad.mit.edu	37	14	21967215	21967215	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr14:21967215G>A	ENST00000298717.4	-	10	1736	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	TOX4_ENST00000262709.3_3'UTR|TOX4_ENST00000405508.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	529					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCAATCTTGCGAGTGCCAGGA	0.413																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1585-1587)Cgc>Tgc		methyltransferase like 3							173.0	142.0	152.0					14																	21967215		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21967215G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1585C>T	14.37:g.21967215G>A	ENSP00000298717:p.Arg529Cys					TOX4_ENST00000405508.1_3'UTR|TOX4_ENST00000262709.3_3'UTR	p.R529C	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	10	1736	-	all_cancers(95;0.000628)		529					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.1585C>T	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621519	0.87460	.	.	ENSG00000165819	ENST00000298717	T	0.50277	0.75	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81618	-0.0851	10	0.87932	D	0	-10.6636	18.6193	0.91316	0.0:0.0:1.0:0.0	.	529	Q86U44	MTA70_HUMAN	C	529	ENSP00000298717:R529C	ENSP00000298717:R529C	R	-	1	0	METTL3	21037055	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.464000	0.66719	2.698000	0.92095	0.655000	0.94253	CGC		0.413	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		27	34	0	0	0	1	0	27	34				
NCKIPSD	51517	broad.mit.edu	37	3	48719141	48719141	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:48719141T>A	ENST00000294129.2	-	5	790	c.671A>T	c.(670-672)gAc>gTc	p.D224V	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D217V|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D224V	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	224	Pro-rich.|Ser/Thr-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGAGCGTGTCCAGGGAGGT	0.647																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(670-672)gAc>gTc		NCK interacting protein with SH3 domain							23.0	29.0	27.0					3																	48719141		2188	4288	6476	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48719141T>A	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.671A>T	3.37:g.48719141T>A	ENSP00000294129:p.Asp224Val					NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D217V|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D224V	p.D224V	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	5	790	-			224			Pro-rich.|Ser/Thr-rich.		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.671A>T	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517717	0.85495	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.51071	0.72;1.34;1.32;1.25	5.0	5.0	0.66597	.	0.638199	0.14545	U	0.313016	T	0.64962	0.2646	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.67548	0.942;0.897;0.952	T	0.62487	-0.6844	10	0.42905	T	0.14	.	14.7002	0.69150	0.0:0.0:0.0:1.0	.	224;224;217	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	V	224;217;224;224;146;108	ENSP00000342621:D224V;ENSP00000389059:D217V;ENSP00000294129:D224V;ENSP00000409675:D224V	ENSP00000294129:D224V	D	-	2	0	NCKIPSD	48694145	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.859000	0.55987	1.857000	0.53885	0.459000	0.35465	GAC		0.647	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		12	6	0	0	0	1	0	12	6				
RPS24	6229	broad.mit.edu	37	10	79797023	79797023	+	Silent	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr10:79797023C>T	ENST00000372360.3	+	4	388	c.351C>T	c.(349-351)gtC>gtT	p.V117V	RPS24_ENST00000435275.1_Silent_p.V117V|RPS24_ENST00000476545.1_3'UTR|RPS24_ENST00000360830.4_Silent_p.V117V|RPS24_ENST00000440692.1_Silent_p.V117V	NM_001026.4	NP_001017.1	P62847	RS24_HUMAN	ribosomal protein S24	117					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			TGAAGAAAGTCAGGGGGACTG	0.398																																						ENST00000360830.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5						c.(349-351)gtC>gtT		ribosomal protein S24							47.0	50.0	49.0					10																	79797023		2203	4298	6501	SO:0001819	synonymous_variant	6229				endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding	g.chr10:79797023C>T	AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"""S ribosomal proteins"""	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000372360.3:c.351C>T	10.37:g.79797023C>T						RPS24_ENST00000476545.1_3'UTR|RPS24_ENST00000440692.1_Silent_p.V117V|RPS24_ENST00000435275.1_Silent_p.V117V|RPS24_ENST00000372360.3_Silent_p.V117V	p.117_117insV			P62847	RS24_HUMAN	Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)		4	370	+	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		0					E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Missense_Mutation	SNP	ENST00000372360.3	37	c.351C>T	CCDS7355.1																																																																																				0.398	RPS24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048910.1	NM_001026		3	2	0	0	0	1	0	3	2				
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	rs587781288		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr17:7578508C>T	ENST00000269305.4	-	5	611	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGCACAGGGCAGGTCTTGGC	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		121	Substitution - Missense(99)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)	large_intestine(23)|breast(17)|ovary(12)|haematopoietic_and_lymphoid_tissue(7)|oesophagus(7)|liver(7)|upper_aerodigestive_tract(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(6)|lung(5)|prostate(5)|bone(5)|stomach(4)|soft_tissue(2)|biliary_tract(1)|testis(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM993216	TP53	M		c.(421-423)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							56.0	55.0	55.0					17																	7578508		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578508C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.422G>A	17.37:g.7578508C>T	ENSP00000269305:p.Cys141Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y	p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	554	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.422G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720132	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.48	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99832	0.9924	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.987;1.0;0.999;1.0;1.0	D	0.96735	0.9542	10	0.87932	D	0	-26.1094	13.743	0.62860	0.1552:0.8448:0.0:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141Y;ENSP00000352610:C141Y;ENSP00000269305:C141Y;ENSP00000398846:C141Y;ENSP00000391127:C141Y;ENSP00000391478:C141Y;ENSP00000425104:C9Y;ENSP00000423862:C48Y;ENSP00000424104:C141Y	ENSP00000269305:C141Y	C	-	2	0	TP53	7519233	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	6.016000	0.70798	1.427000	0.47276	-0.182000	0.12963	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	12	0	0	0	1	0	22	12				
RIMBP2	23504	broad.mit.edu	37	12	130927081	130927081	+	Silent	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr12:130927081G>A	ENST00000261655.4	-	8	928	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_ENST00000535703.1_Silent_p.S163S|RIMBP2_ENST00000536002.1_Silent_p.S163S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	255					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCGATGCCGGAATGGTTGA	0.597																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(763-765)tcC>tcT		RIMS binding protein 2							193.0	179.0	184.0					12																	130927081		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927081G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.765C>T	12.37:g.130927081G>A						RIMBP2_ENST00000535703.1_Silent_p.S163S|RIMBP2_ENST00000536002.1_Silent_p.S163S	p.S255S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	928	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	255					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.765C>T	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		4	107	0	0	0	1	0	4	107				
MYO6	4646	broad.mit.edu	37	6	76572371	76572371	+	Silent	SNP	T	T	G			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:76572371T>G	ENST00000369977.3	+	16	1744	c.1605T>G	c.(1603-1605)ctT>ctG	p.L535L	MYO6_ENST00000369985.4_Silent_p.L535L|RNA5SP209_ENST00000411237.1_RNA|MYO6_ENST00000369975.1_Silent_p.L535L|MYO6_ENST00000369981.3_Silent_p.L535L	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	535	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAATCGCCTTCCCCAGCCAA	0.353																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1603-1605)ctT>ctG		myosin VI							122.0	106.0	111.0					6																	76572371		2203	4300	6503	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76572371T>G	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1605T>G	6.37:g.76572371T>G						MYO6_ENST00000369985.4_Silent_p.L535L|MYO6_ENST00000369975.1_Silent_p.L535L|MYO6_ENST00000369977.3_Silent_p.L535L	p.L535L			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	16	1884	+		all_hematologic(105;0.189)	535			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.1605T>G	CCDS34487.1																																																																																				0.353	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		24	13	0	0	0	1	0	24	13				
PHIP	55023	broad.mit.edu	37	6	79655040	79655040	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:79655040T>G	ENST00000275034.4	-	39	4972	c.4805A>C	c.(4804-4806)aAg>aCg	p.K1602T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1602					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGCTGATGACTTTGAAAGAGT	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4804-4806)aAg>aCg		pleckstrin homology domain interacting protein							203.0	196.0	198.0					6																	79655040		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655040T>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4805A>C	6.37:g.79655040T>G	ENSP00000275034:p.Lys1602Thr					PHIP_ENST00000479165.1_5'UTR	p.K1602T	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	39	4972	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1602					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4805A>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187134	0.38609	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.39787	1.06	5.86	5.86	0.93980	.	0.280830	0.34959	N	0.003556	T	0.34687	0.0906	N	0.19112	0.55	0.41368	D	0.987476	D;D	0.57899	0.981;0.981	D;D	0.67900	0.954;0.954	T	0.24657	-1.0154	9	.	.	.	-16.425	12.6371	0.56689	0.0:0.0:0.0:1.0	.	1602;1602	A7J992;Q8WWQ0	.;PHIP_HUMAN	T	1602;328	ENSP00000275034:K1602T	.	K	-	2	0	PHIP	79711759	1.000000	0.71417	0.959000	0.39883	0.937000	0.57800	4.008000	0.57103	2.241000	0.73720	0.533000	0.62120	AAG		0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			34	68	0	0	0	1	0	34	68				
SHROOM3	57619	broad.mit.edu	37	4	77661336	77661336	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:77661336G>C	ENST00000296043.6	+	5	2963	c.2010G>C	c.(2008-2010)gaG>gaC	p.E670D		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	670					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACATTCCTGAGAGTCTGAGAA	0.597																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2008-2010)gaG>gaC		shroom family member 3							49.0	59.0	56.0					4																	77661336		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661336G>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2010G>C	4.37:g.77661336G>C	ENSP00000296043:p.Glu670Asp						p.E670D	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2963	+			670					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2010G>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607397	0.46527	.	.	ENSG00000138771	ENST00000296043	T	0.32753	1.44	5.64	-0.355	0.12587	.	0.649919	0.14939	N	0.289605	T	0.24661	0.0598	L	0.55103	1.725	0.26627	N	0.972542	B;B;B	0.25521	0.125;0.128;0.049	B;B;B	0.23275	0.041;0.045;0.026	T	0.16512	-1.0400	10	0.41790	T	0.15	-20.7354	7.57	0.27902	0.3112:0.1197:0.5691:0.0	.	494;670;448	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	D	670	ENSP00000296043:E670D	ENSP00000296043:E670D	E	+	3	2	SHROOM3	77880360	0.982000	0.34865	0.662000	0.29724	0.539000	0.34962	0.378000	0.20569	-0.029000	0.13827	0.462000	0.41574	GAG		0.597	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		55	85	0	0	0	1	0	55	85				
IFI44L	10964	broad.mit.edu	37	1	79107493	79107493	+	Nonstop_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:79107493G>C	ENST00000370751.5	+	9	1537	c.1358G>C	c.(1357-1359)tGa>tCa	p.*453S	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Nonstop_Mutation_p.*195S	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	0					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCCTGCATTTGAGATAAGTTG	0.428																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1357-1359)tGa>tCa		interferon-induced protein 44-like							288.0	264.0	272.0					1																	79107493		2203	4300	6503	SO:0001578	stop_lost	10964					cytoplasm		g.chr1:79107493G>C	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1358G>C	1.37:g.79107493G>C	ENSP00000359787:p.*453Serext*5					IFI44L_ENST00000342282.3_Nonstop_Mutation_p.*195S|IFI44L_ENST00000476521.1_3'UTR	p.*453S	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			9	1537	+			0					Q86TE1|Q96B64|Q99984	Nonstop_Mutation	SNP	ENST00000370751.5	37	c.1358G>C	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	3.211	-0.161608	0.06502	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	.	.	.	3.16	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5878	0.17283	0.2647:0.0:0.7353:0.0	.	.	.	.	S	453;195	.	.	X	+	2	2	IFI44L	78880081	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	0.381000	0.20619	0.350000	0.24002	0.557000	0.71058	TGA		0.428	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		44	83	0	0	0	1	0	44	83				
DOCK5	80005	broad.mit.edu	37	8	25226143	25226143	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:25226143C>G	ENST00000276440.7	+	33	3384	c.3340C>G	c.(3340-3342)Ctg>Gtg	p.L1114V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1114					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAGGTCACTCTGACCCCTGA	0.408																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3340-3342)Ctg>Gtg		dedicator of cytokinesis 5							71.0	71.0	71.0					8																	25226143		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25226143C>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3340C>G	8.37:g.25226143C>G	ENSP00000276440:p.Leu1114Val						p.L1114V	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	33	3384	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1114					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3340C>G	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.15|18.15	3.560374|3.560374	0.65538|0.65538	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.50277|.	0.75|.	5.8|5.8	-0.114|-0.114	0.13564|0.13564	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.76147|0.76147	0.3947|0.3947	M|M	0.86343|0.86343	2.81|2.81	0.47245|0.47245	D|D	0.999368|0.999368	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.77557|.	0.976;0.99;0.976|.	T|T	0.78674|0.78674	-0.2112|-0.2112	10|5	0.87932|.	D|.	0|.	.|.	13.9608|13.9608	0.64177|0.64177	0.0:0.6334:0.0:0.3666|0.0:0.6334:0.0:0.3666	.|.	1104;889;1114|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	V|C	1114|885	ENSP00000276440:L1114V|.	ENSP00000276440:L1114V|.	L|S	+|+	1|2	2|0	DOCK5|DOCK5	25282060|25282060	0.109000|0.109000	0.22037|0.22037	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	0.491000|0.491000	0.22419|0.22419	0.030000|0.030000	0.15379|0.15379	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		20	15	0	0	0	1	0	20	15				
LDLR	3949	broad.mit.edu	37	19	11231182	11231182	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr19:11231182G>A	ENST00000558518.1	+	14	2311	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	LDLR_ENST00000557933.1_Missense_Mutation_p.M708I|LDLR_ENST00000455727.2_Missense_Mutation_p.M540I|LDLR_ENST00000535915.1_Missense_Mutation_p.M667I|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.M708I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	708	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CCAGGGACATGAGGAGCTGCC	0.627																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2122-2124)atG>atA		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						44.0	42.0	43.0					19																	11231182		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11231182G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2124G>A	19.37:g.11231182G>A	ENSP00000454071:p.Met708Ile					LDLR_ENST00000455727.2_Missense_Mutation_p.M540I|LDLR_ENST00000557933.1_Missense_Mutation_p.M708I|LDLR_ENST00000558013.1_Missense_Mutation_p.M708I|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.M667I	p.M708I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	14	2311	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	708			EGF-like 3.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.2124G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170571	0.57584	.	.	ENSG00000130164	ENST00000252444;ENST00000535915;ENST00000455727	D;D	0.96265	-3.96;-3.96	5.3	5.3	0.74995	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.078821	0.50627	D	0.000107	D	0.97309	0.9120	M	0.91561	3.22	0.58432	D	0.999998	B;B;B;B;B	0.25850	0.136;0.052;0.044;0.052;0.052	B;B;B;B;B	0.36464	0.216;0.225;0.112;0.18;0.18	D	0.96608	0.9450	10	0.36615	T	0.2	.	17.7333	0.88384	0.0:0.0:1.0:0.0	.	540;587;667;720;708	B4DR00;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;LDLR_HUMAN	I	708;667;540	ENSP00000440520:M667I;ENSP00000397829:M540I	ENSP00000252444:M708I	M	+	3	0	LDLR	11092182	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.055000	0.71103	2.499000	0.84300	0.655000	0.94253	ATG		0.627	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			23	28	0	0	0	1	0	23	28				
OR5D14	219436	broad.mit.edu	37	11	55563188	55563188	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:55563188A>G	ENST00000335605.1	+	1	157	c.157A>G	c.(157-159)Att>Gtt	p.I53V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATAATCAAGATTAACCCCAA	0.388																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(157-159)Att>Gtt		olfactory receptor, family 5, subfamily D, member 14							229.0	211.0	217.0					11																	55563188		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563188A>G	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.157A>G	11.37:g.55563188A>G	ENSP00000334456:p.Ile53Val						p.I53V	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	157	+		all_epithelial(135;0.196)	53					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.157A>G	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	a	0.420	-0.908923	0.02434	.	.	ENSG00000186113	ENST00000335605	T	0.02916	4.11	5.08	-5.68	0.02436	GPCR, rhodopsin-like superfamily (1);	0.646124	0.13584	N	0.377127	T	0.01254	0.0041	N	0.16368	0.405	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.46048	-0.9219	10	0.17832	T	0.49	-1.8955	0.5448	0.00651	0.2815:0.2238:0.2763:0.2183	.	53	Q8NGL3	OR5DE_HUMAN	V	53	ENSP00000334456:I53V	ENSP00000334456:I53V	I	+	1	0	OR5D14	55319764	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.199000	0.17237	-1.103000	0.03019	-1.195000	0.01675	ATT		0.388	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		17	51	0	0	0	1	0	17	51				
MCM10	55388	broad.mit.edu	37	10	13213057	13213057	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr10:13213057C>T	ENST00000484800.2	+	3	246	c.143C>T	c.(142-144)gCc>gTc	p.A48V	MCM10_ENST00000378694.1_Missense_Mutation_p.A48V|MCM10_ENST00000378714.3_Missense_Mutation_p.A48V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	48	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTCTTTGATGCCGACGGCGAC	0.458																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(142-144)gCc>gTc		minichromosome maintenance complex component 10							142.0	145.0	144.0					10																	13213057		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13213057C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.143C>T	10.37:g.13213057C>T	ENSP00000418268:p.Ala48Val					MCM10_ENST00000378714.3_Missense_Mutation_p.A48V|MCM10_ENST00000484800.2_Missense_Mutation_p.A48V	p.A48V			Q7L590	MCM10_HUMAN			2	218	+			48					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.143C>T	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957529	0.53400	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.16597	2.34;2.34;2.33	5.7	5.7	0.88788	.	0.212392	0.49305	D	0.000158	T	0.29321	0.0730	M	0.62723	1.935	0.30752	N	0.744992	D;D;D	0.56521	0.958;0.976;0.958	P;P;P	0.54140	0.558;0.743;0.558	T	0.22591	-1.0212	10	0.46703	T	0.11	-2.0977	11.1747	0.48593	0.1426:0.7199:0.1375:0.0	.	48;48;48	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	V	48	ENSP00000367986:A48V;ENSP00000418268:A48V;ENSP00000367966:A48V	ENSP00000354945:A48V	A	+	2	0	MCM10	13253063	0.934000	0.31675	0.992000	0.48379	0.103000	0.19146	1.828000	0.39111	2.683000	0.91414	0.655000	0.94253	GCC		0.458	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		5	128	0	0	0	1	0	5	128				
SLC10A4	201780	broad.mit.edu	37	4	48490503	48490503	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:48490503G>A	ENST00000273861.4	+	3	1080	c.861G>A	c.(859-861)atG>atA	p.M287I	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCGGCACTATGTTAGGACCTG	0.433																																						ENST00000273861.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(859-861)atG>atA		solute carrier family 10, member 4							174.0	176.0	175.0					4																	48490503		2203	4300	6503	SO:0001583	missense	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48490503G>A	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.861G>A	4.37:g.48490503G>A	ENSP00000273861:p.Met287Ile						p.M287I	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN			3	1080	+			287					Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	37	c.861G>A	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615684	0.66672	.	.	ENSG00000145248	ENST00000273861	T	0.10382	2.88	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.43923	1.385	0.80722	D	1	D	0.57571	0.98	P	0.57679	0.825	T	0.00142	-1.1997	10	0.30854	T	0.27	-3.6003	20.0358	0.97557	0.0:0.0:1.0:0.0	.	287	Q96EP9	NTCP4_HUMAN	I	287	ENSP00000273861:M287I	ENSP00000273861:M287I	M	+	3	0	SLC10A4	48185260	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	9.420000	0.97426	2.805000	0.96524	0.655000	0.94253	ATG		0.433	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		50	80	0	0	0	1	0	50	80				
IGJ	3512	broad.mit.edu	37	4	71522211	71522211	+	Silent	SNP	T	T	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr4:71522211T>A	ENST00000254801.4	-	4	484	c.315A>T	c.(313-315)atA>atT	p.I105I	IGJ_ENST00000543780.1_Silent_p.I121I|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	105					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAGCAGTAACTATCTGATTAT	0.418																																						ENST00000254801.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(313-315)atA>atT		immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides							157.0	128.0	138.0					4																	71522211		2203	4300	6503	SO:0001819	synonymous_variant	3512				immune response	extracellular region	antigen binding	g.chr4:71522211T>A	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.315A>T	4.37:g.71522211T>A						IGJ_ENST00000543780.1_Silent_p.I121I|ENAM_ENST00000472903.1_Intron	p.I105I	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	Lung(101;0.235)		4	484	-			105						Silent	SNP	ENST00000254801.4	37	c.315A>T	CCDS3545.1																																																																																				0.418	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		14	26	0	0	0	1	0	14	26				
OTUD7B	56957	broad.mit.edu	37	1	149916210	149916210	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:149916210G>C	ENST00000369135.4	-	12	2372	c.2078C>G	c.(2077-2079)cCt>cGt	p.P693R		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	693					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAAGTCCCCAGGGTAGCCAGT	0.647																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2077-2079)cCt>cGt		OTU domain containing 7B							48.0	50.0	49.0					1																	149916210		1900	4111	6011	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916210G>C	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2078C>G	1.37:g.149916210G>C	ENSP00000358131:p.Pro693Arg						p.P693R	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2372	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		693					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.2078C>G	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	g	11.60	1.687094	0.29962	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.32023	1.47	4.4	4.4	0.53042	.	0.689004	0.14518	N	0.314642	T	0.11750	0.0286	N	0.22421	0.69	0.34610	D	0.717421	P	0.45902	0.868	B	0.39068	0.289	T	0.07578	-1.0765	9	.	.	.	-1.5801	16.1802	0.81892	0.0:0.0:1.0:0.0	.	693	Q6GQQ9	OTU7B_HUMAN	R	693	ENSP00000358131:P693R	.	P	-	2	0	OTUD7B	148182834	1.000000	0.71417	0.993000	0.49108	0.621000	0.37620	5.621000	0.67743	2.295000	0.77249	0.552000	0.68991	CCT		0.647	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		52	25	0	0	0	1	0	52	25				
NEK5	341676	broad.mit.edu	37	13	52684525	52684525	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr13:52684525C>T	ENST00000355568.4	-	7	557	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GCCACCATTCCGTTCTTGCTA	0.353																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(418-420)Gga>Aga		NIMA-related kinase 5							141.0	137.0	139.0					13																	52684525		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52684525C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.418G>A	13.37:g.52684525C>T	ENSP00000347767:p.Gly140Arg						p.G140R	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	7	557	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	140			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.418G>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375327	0.82682	.	.	ENSG00000197168	ENST00000355568	T	0.31247	1.5	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.54549	0.1865	M	0.62266	1.93	0.54753	D	0.999987	D	0.89917	1.0	D	0.79784	0.993	T	0.56129	-0.8030	10	0.56958	D	0.05	.	18.4315	0.90627	0.0:1.0:0.0:0.0	.	140	Q6P3R8	NEK5_HUMAN	R	140	ENSP00000347767:G140R	ENSP00000347767:G140R	G	-	1	0	NEK5	51582526	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.383000	0.79741	2.365000	0.80145	0.467000	0.42956	GGA		0.353	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		27	32	0	0	0	1	0	27	32				
SENP2	59343	broad.mit.edu	37	3	185332487	185332487	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:185332487G>C	ENST00000296257.5	+	11	1309	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	SENP2_ENST00000545472.1_Missense_Mutation_p.E347Q|SENP2_ENST00000427465.2_Missense_Mutation_p.E181Q	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	357					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCAGGCAAAGAGAGGGACAG	0.438																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(1069-1071)Gag>Cag		SUMO1/sentrin/SMT3 specific peptidase 2							116.0	111.0	113.0					3																	185332487		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185332487G>C	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1069G>C	3.37:g.185332487G>C	ENSP00000296257:p.Glu357Gln					SENP2_ENST00000545472.1_Missense_Mutation_p.E347Q|SENP2_ENST00000427465.2_Missense_Mutation_p.E181Q	p.E357Q	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		11	1309	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		357					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.1069G>C	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016853	0.54576	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465;ENST00000444509	T;T;T;T	0.32753	1.82;1.83;1.86;1.44	5.46	5.46	0.80206	.	0.514144	0.19410	N	0.114944	T	0.29882	0.0747	L	0.47190	1.495	0.31710	N	0.639694	B;B	0.29531	0.247;0.083	B;B	0.32090	0.14;0.14	T	0.21042	-1.0257	10	0.21540	T	0.41	-13.1765	15.1955	0.73084	0.0:0.0:1.0:0.0	.	347;357	B4DQ42;Q9HC62	.;SENP2_HUMAN	Q	347;357;228;181;64	ENSP00000439653:E347Q;ENSP00000296257:E357Q;ENSP00000394562:E181Q;ENSP00000399201:E64Q	ENSP00000296257:E357Q	E	+	1	0	SENP2	186815181	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.717000	0.47227	2.734000	0.93682	0.655000	0.94253	GAG		0.438	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		18	36	0	0	0	1	0	18	36				
RIOK2	55781	broad.mit.edu	37	5	96503372	96503372	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr5:96503372G>T	ENST00000283109.3	-	8	1264	c.1196C>A	c.(1195-1197)gCt>gAt	p.A399D	RIOK2_ENST00000508447.1_Missense_Mutation_p.A399D|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	399	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTCTTCTAAAGCTTGATTGAA	0.373																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(1195-1197)gCt>gAt		RIO kinase 2							82.0	87.0	85.0					5																	96503372		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503372G>T	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1196C>A	5.37:g.96503372G>T	ENSP00000283109:p.Ala399Asp					CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.A399D	p.A399D	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	8	1264	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	399			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.1196C>A	CCDS4089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.316391|3.316391	0.60524|0.60524	.|.	.|.	ENSG00000058729|ENSG00000058729	ENST00000283109;ENST00000508447|ENST00000511012	T;T|.	0.23950|.	1.88;1.88|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.143042|.	0.64402|.	D|.	0.000006|.	T|T	0.75258|0.75258	0.3825|0.3825	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.39576|.	0.679;0.469|.	B;B|.	0.38106|.	0.265;0.196|.	T|T	0.70733|0.70733	-0.4791|-0.4791	10|5	0.28530|.	T|.	0.3|.	-13.0027|-13.0027	20.2476|20.2476	0.98400|0.98400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	399;399|.	D6RDI3;Q9BVS4|.	.;RIOK2_HUMAN|.	D|I	399|18	ENSP00000283109:A399D;ENSP00000420932:A399D|.	ENSP00000283109:A399D|.	A|L	-|-	2|1	0|0	RIOK2|RIOK2	96529128|96529128	0.786000|0.786000	0.28738|0.28738	0.619000|0.619000	0.29118|0.29118	0.457000|0.457000	0.32468|0.32468	4.320000|4.320000	0.59203|0.59203	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GCT|CTT		0.373	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		33	13	1	0	1.30897e-18	1	1.36651e-18	33	13				
DCHS1	8642	broad.mit.edu	37	11	6645063	6645063	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:6645063G>A	ENST00000299441.3	-	21	8255	c.7844C>T	c.(7843-7845)aCa>aTa	p.T2615I	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2615	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAACAGGTGTGTCCTCAGG	0.567																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7843-7845)aCa>aTa		dachsous cadherin-related 1							195.0	173.0	180.0					11																	6645063		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645063G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7844C>T	11.37:g.6645063G>A	ENSP00000299441:p.Thr2615Ile						p.T2615I	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8255	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2615			Cadherin 25.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7844C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601671	0.46423	.	.	ENSG00000166341	ENST00000299441	T	0.52295	0.67	5.4	4.45	0.53987	Cadherin (3);Cadherin-like (1);	0.143577	0.32093	N	0.006591	T	0.31949	0.0813	N	0.20986	0.625	0.27492	N	0.95226	B	0.12013	0.005	B	0.15870	0.014	T	0.17410	-1.0370	10	0.38643	T	0.18	.	9.2926	0.37795	0.1149:0.0:0.8851:0.0	.	2615	Q96JQ0	PCD16_HUMAN	I	2615	ENSP00000299441:T2615I	ENSP00000299441:T2615I	T	-	2	0	DCHS1	6601639	0.994000	0.37717	0.919000	0.36401	0.974000	0.67602	4.580000	0.60942	1.393000	0.46605	0.650000	0.86243	ACA		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		32	139	0	0	0	1	0	32	139				
ADCK3	56997	broad.mit.edu	37	1	227149148	227149148	+	Missense_Mutation	SNP	C	C	T	rs142184584	byFrequency	TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:227149148C>T	ENST00000366779.1	+	7	2833	c.62C>T	c.(61-63)gCg>gTg	p.A21V	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.A21V			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	21					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTGACCCAGGCGGCCGTGGAA	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18313	0.0		0.0	False		,,,				2504	0.0					ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(61-63)gCg>gTg		aarF domain containing kinase 3		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	47.0	48.0	48.0		62	3.7	0.6	1	dbSNP_134	48	0,8600		0,0,4300	no	missense	ADCK3	NM_020247.4	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	21/648	227149148	1,13005	2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227149148C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.62C>T	1.37:g.227149148C>T	ENSP00000355741:p.Ala21Val					ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.A21V|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366776.1_Missense_Mutation_p.A21V|ADCK3_ENST00000366775.1_5'UTR	p.A21V			Q8NI60	ADCK3_HUMAN			7	2833	+			21					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.62C>T	CCDS1557.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.63	2.888964	0.52014	2.27E-4	0.0	ENSG00000163050	ENST00000366779;ENST00000366777;ENST00000366776	T;T;D	0.85088	-1.27;-1.27;-1.94	5.62	3.69	0.42338	.	0.103083	0.64402	N	0.000003	T	0.74801	0.3764	L	0.38175	1.15	0.80722	D	1	B	0.23128	0.08	B	0.12837	0.008	T	0.63924	-0.6527	10	0.12103	T	0.63	-14.3034	10.3111	0.43710	0.0:0.8292:0.0:0.1708	.	21	Q8NI60	ADCK3_HUMAN	V	21	ENSP00000355741:A21V;ENSP00000355739:A21V;ENSP00000355738:A21V	ENSP00000355738:A21V	A	+	2	0	ADCK3	225215771	0.636000	0.27207	0.633000	0.29310	0.600000	0.36913	1.045000	0.30341	0.667000	0.31107	0.655000	0.94253	GCG		0.617	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		50	15	0	0	0	1	0	50	15				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	61	0	0	0	1	0	4	61				
WDR72	256764	broad.mit.edu	37	15	53889440	53889440	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:53889440G>A	ENST00000396328.1	-	18	3223	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V	WDR72_ENST00000360509.5_Missense_Mutation_p.A995V|WDR72_ENST00000557913.1_Missense_Mutation_p.A992V|WDR72_ENST00000559418.1_Missense_Mutation_p.A1005V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTGAACTTCCGCCAAGAGAAC	0.373																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2983-2985)gCg>gTg		WD repeat domain 72							199.0	186.0	191.0					15																	53889440		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53889440G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2984C>T	15.37:g.53889440G>A	ENSP00000379619:p.Ala995Val					WDR72_ENST00000557913.1_Missense_Mutation_p.A992V|WDR72_ENST00000559418.1_Missense_Mutation_p.A1005V|WDR72_ENST00000360509.5_Missense_Mutation_p.A995V	p.A995V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3223	-			995					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2984C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967237	0.74131	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.58358	0.34;0.34	6.04	5.13	0.70059	.	0.000000	0.64402	D	0.000003	T	0.68504	0.3008	M	0.63843	1.955	0.33389	D	0.575867	D	0.89917	1.0	D	0.83275	0.996	T	0.78838	-0.2046	10	0.72032	D	0.01	.	12.3571	0.55182	0.0779:0.0:0.9221:0.0	.	995	Q3MJ13	WDR72_HUMAN	V	995	ENSP00000379619:A995V;ENSP00000353699:A995V	ENSP00000353699:A995V	A	-	2	0	WDR72	51676732	1.000000	0.71417	0.911000	0.35937	0.742000	0.42306	6.285000	0.72658	1.573000	0.49748	0.563000	0.77884	GCG		0.373	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		44	96	0	0	0	1	0	44	96				
AKAP17A	8227	broad.mit.edu	37	X	1712669	1712669	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chrX:1712669G>C	ENST00000313871.3	+	2	510	c.314G>C	c.(313-315)gGc>gCc	p.G105A	AKAP17A_ENST00000381261.3_Missense_Mutation_p.G105A	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	105	PKA-RI and PKA-RII subunit binding domain.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AAGCTCAGCGGCTTCTCCGAC	0.602																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(313-315)gGc>gCc		A kinase (PRKA) anchor protein 17A							143.0	150.0	147.0					X																	1712669		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712669G>C	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.314G>C	X.37:g.1712669G>C	ENSP00000324827:p.Gly105Ala					AKAP17A_ENST00000381261.3_Missense_Mutation_p.G105A	p.G105A	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	510	+			105			PKA-RI and PKA-RII subunit binding domain.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.314G>C	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.720968	0.30503	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.33865	1.39;1.39	1.96	1.96	0.26148	.	0.156559	0.42548	U	0.000685	T	0.55924	0.1951	.	.	.	0.22500	N	0.999047	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.49624	-0.8920	9	0.72032	D	0.01	-38.6025	12.3226	0.54993	0.0:0.0:1.0:0.0	.	105;105	Q02040-3;Q02040	.;AK17A_HUMAN	A	105	ENSP00000324827:G105A;ENSP00000370660:G105A	ENSP00000324827:G105A	G	+	2	0	AKAP17A	1672669	1.000000	0.71417	0.018000	0.16275	0.398000	0.30690	5.236000	0.65354	0.761000	0.33130	0.100000	0.15512	GGC		0.602	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		87	131	0	0	0	1	0	87	131				
TMEM132E	124842	broad.mit.edu	37	17	32959825	32959825	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr17:32959825G>A	ENST00000321639.5	+	7	1643	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	439						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCTCCCCTGGAAATGACAGT	0.582																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1315-1317)Gaa>Aaa		transmembrane protein 132E							192.0	168.0	176.0					17																	32959825		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32959825G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1315G>A	17.37:g.32959825G>A	ENSP00000316532:p.Glu439Lys						p.E439K	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	7	1643	+			439					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1315G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132068	0.94473	.	.	ENSG00000181291	ENST00000321639	T	0.23552	1.9	4.61	4.61	0.57282	.	0.113936	0.64402	D	0.000011	T	0.40839	0.1133	L	0.49350	1.555	0.80722	D	1	D	0.64830	0.994	P	0.61397	0.888	T	0.06899	-1.0801	10	0.23302	T	0.38	-15.0882	16.6219	0.84932	0.0:0.0:1.0:0.0	.	439	Q6IEE7	T132E_HUMAN	K	439	ENSP00000316532:E439K	ENSP00000316532:E439K	E	+	1	0	TMEM132E	29983938	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	2.388000	0.81334	0.551000	0.68910	GAA		0.582	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		91	133	0	0	0	1	0	91	133				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	57	0	0	0	1	0	4	57				
CACYBP	27101	broad.mit.edu	37	1	174979205	174979205	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:174979205C>T	ENST00000367679.2	+	6	1125	c.677C>T	c.(676-678)aCg>aTg	p.T226M	MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.T183M|CACYBP_ENST00000367681.2_Missense_Mutation_p.T183M	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	226	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.			T -> P (in Ref. 4; AAG23817). {ECO:0000305}.	aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AAAGGAGACACGGAATTTTGA	0.368																																						ENST00000367681.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(547-549)aCg>aTg		calcyclin binding protein							97.0	93.0	95.0					1																	174979205		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174979205C>T	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.677C>T	1.37:g.174979205C>T	ENSP00000356652:p.Thr226Met					CACYBP_ENST00000367679.2_Missense_Mutation_p.T226M|CACYBP_ENST00000405362.1_Missense_Mutation_p.T183M	p.T183M	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			6	1188	+			226	T -> P (in Ref. 4; AAG23817).		Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.548C>T	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937445	0.34189	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	6.02	5.08	0.68730	SGS (1);	0.378221	0.32753	N	0.005682	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	B	0.33904	0.431	B	0.20767	0.031	T	0.12967	-1.0527	9	0.33141	T	0.24	-5.9619	8.8683	0.35300	0.0:0.7511:0.1498:0.0992	.	226	Q9HB71	CYBP_HUMAN	M	183;199;226;183	.	ENSP00000356652:T226M	T	+	2	0	CACYBP	173245828	0.992000	0.36948	0.884000	0.34674	0.969000	0.65631	2.336000	0.43938	2.865000	0.98341	0.655000	0.94253	ACG		0.368	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		19	49	0	0	0	1	0	19	49				
DDX3X	1654	broad.mit.edu	37	X	41203625	41203625	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chrX:41203625G>C	ENST00000399959.2	+	10	1853	c.998G>C	c.(997-999)aGa>aCa	p.R333T	DDX3X_ENST00000457138.2_Missense_Mutation_p.R317T|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	333	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATGATGGAAAGAGGAAAGATT	0.383										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(997-999)aGa>aCa		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							224.0	212.0	216.0					X																	41203625		2203	4300	6503	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41203625G>C	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.998G>C	X.37:g.41203625G>C	ENSP00000382840:p.Arg333Thr	HNSCC(61;0.18)				DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.R317T	p.R333T	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			10	1853	+			333			Helicase ATP-binding.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.998G>C	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	g	28.9	4.964479	0.92791	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.13538	2.58;2.58	5.51	5.51	0.81932	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	L	0.45744	1.44	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.998;1.0;1.0	T	0.03060	-1.1077	10	0.87932	D	0	-3.0496	18.5265	0.90974	0.0:0.0:1.0:0.0	.	333;317;333;345;333	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	T	333;317	ENSP00000382840:R333T;ENSP00000392494:R317T	ENSP00000382840:R333T	R	+	2	0	DDX3X	41088569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.317000	0.78254	0.597000	0.82753	AGA		0.383	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		61	46	0	0	0	1	0	61	46				
RNF103	7844	broad.mit.edu	37	2	86831499	86831499	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:86831499T>C	ENST00000237455.4	-	4	2493	c.1525A>G	c.(1525-1527)Att>Gtt	p.I509V	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	509					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AAGTTTTTAATATAATCAGTT	0.433																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(1525-1527)Att>Gtt		ring finger protein 103							106.0	113.0	111.0					2																	86831499		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831499T>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1525A>G	2.37:g.86831499T>C	ENSP00000237455:p.Ile509Val					RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA	p.I509V	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2493	-			509					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1525A>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266525	0.40095	.	.	ENSG00000239305	ENST00000237455	T	0.53206	0.63	5.84	5.84	0.93424	.	0.043937	0.85682	D	0.000000	T	0.61702	0.2368	L	0.50333	1.59	0.58432	D	0.999998	P	0.48640	0.913	P	0.61592	0.891	T	0.59815	-0.7383	10	0.44086	T	0.13	-17.7719	16.2231	0.82269	0.0:0.0:0.0:1.0	.	509	O00237	RN103_HUMAN	V	509	ENSP00000237455:I509V	ENSP00000237455:I509V	I	-	1	0	RNF103	86685010	1.000000	0.71417	0.371000	0.25978	0.971000	0.66376	5.885000	0.69736	2.235000	0.73313	0.377000	0.23210	ATT		0.433	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		60	102	0	0	0	1	0	60	102				
CYP3A7	1551	broad.mit.edu	37	7	99308496	99308496	+	Silent	SNP	G	G	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr7:99308496G>C	ENST00000336374.2	-	10	887	c.885C>G	c.(883-885)ctC>ctG	p.L295L	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	295					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ATTGGGCCATGAGCTCCAGAT	0.413																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(883-885)ctC>ctG		cytochrome P450, family 3, subfamily A, polypeptide 7							86.0	81.0	82.0					7																	99308496		2203	4300	6503	SO:0001819	synonymous_variant	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99308496G>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.885C>G	7.37:g.99308496G>C							p.L295L	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			10	887	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		295					A4D288|Q9H241	Silent	SNP	ENST00000336374.2	37	c.885C>G	CCDS5673.1																																																																																				0.413	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			23	40	0	0	0	1	0	23	40				
FLNB	2317	broad.mit.edu	37	3	58062871	58062871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr3:58062871G>T	ENST00000295956.4	+	2	556	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	FLNB_ENST00000490882.1_Nonsense_Mutation_p.E131*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.E131*|FLNB_ENST00000493452.1_5'Flank|FLNB_ENST00000419752.2_5'Flank|FLNB_ENST00000358537.3_Nonsense_Mutation_p.E131*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.E131*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.E131*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	131	Actin-binding.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGGGAGGATGAAGGGGATGA	0.527																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(391-393)Gaa>Taa		filamin B, beta							108.0	100.0	103.0					3																	58062871		2203	4300	6503	SO:0001587	stop_gained	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58062871G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.391G>T	3.37:g.58062871G>T	ENSP00000295956:p.Glu131*					FLNB_ENST00000490882.1_Nonsense_Mutation_p.E131*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.E131*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.E131*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.E131*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.E131*	p.E131*			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	2	556	+			131			Actin-binding.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	37	c.391G>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	38	7.205791	0.98136	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	.	.	.	5.04	5.04	0.67666	.	0.097039	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7458	0.91792	0.0:0.0:1.0:0.0	.	.	.	.	X	131	.	ENSP00000295956:E131X	E	+	1	0	FLNB	58037911	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.813000	0.99286	2.496000	0.84212	0.455000	0.32223	GAA		0.527	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		48	20	1	0	2.64894e-19	1	2.79611e-19	48	20				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	69	0	0	0	1	0	4	69				
SLCO3A1	28232	broad.mit.edu	37	15	92671628	92671628	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:92671628A>C	ENST00000318445.6	+	7	1635	c.1421A>C	c.(1420-1422)aAc>aCc	p.N474T	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.N474T	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	474	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TGCAATAATAACTGTGAATGC	0.522																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1420-1422)aAc>aCc		solute carrier organic anion transporter family, member 3A1							211.0	171.0	185.0					15																	92671628		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92671628A>C	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1421A>C	15.37:g.92671628A>C	ENSP00000320634:p.Asn474Thr					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.N474T	p.N474T	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1635	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		474			Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1421A>C	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728223	0.48833	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.62788	-0.0;-0.0	5.46	5.46	0.80206	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);	0.127395	0.64402	D	0.000001	T	0.57388	0.2050	L	0.54323	1.7	0.58432	D	0.999997	B;P;B	0.38504	0.066;0.634;0.173	B;B;B	0.35770	0.019;0.167;0.21	T	0.57866	-0.7737	10	0.32370	T	0.25	.	15.5332	0.75980	1.0:0.0:0.0:0.0	.	416;474;474	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	T	474;474;193	ENSP00000320634:N474T;ENSP00000387846:N474T	ENSP00000320634:N474T	N	+	2	0	SLCO3A1	90472632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.746000	0.74866	2.077000	0.62373	0.533000	0.62120	AAC		0.522	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		30	139	0	0	0	1	0	30	139				
SCRT1	83482	broad.mit.edu	37	8	145559793	145559793	+	Silent	SNP	G	G	A			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr8:145559793G>A	ENST00000332135.4	-	1	150	c.39C>T	c.(37-39)gaC>gaT	p.D13D		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	13	SNAG domain. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AAGAGAACGCGTCAAGTTTGA	0.692																																						ENST00000332135.4																			0				breast(2)|upper_aerodigestive_tract(1)	3						c.(37-39)gaC>gaT		scratch family zinc finger 1							31.0	29.0	30.0					8																	145559793		2201	4295	6496	SO:0001819	synonymous_variant	83482					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:145559793G>A	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"""Zinc fingers, C2H2-type"""	15950	protein-coding gene	gene with protein product		605858	"""scratch (drosophila homolog) 1, zinc finger protein"", ""scratch homolog 1, zinc finger protein (Drosophila)"""			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.39C>T	8.37:g.145559793G>A							p.D13D	NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		1	150	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		13					A8MX66|Q96C52	Silent	SNP	ENST00000332135.4	37	c.39C>T	CCDS6421.1																																																																																				0.692	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309		8	30	0	0	0	1	0	8	30				
TMEM151A	256472	broad.mit.edu	37	11	66062449	66062449	+	Silent	SNP	C	C	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr11:66062449C>T	ENST00000327259.4	+	2	876	c.732C>T	c.(730-732)agC>agT	p.S244S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	244						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GCTTCTTCAGCGCCAACGAGG	0.687																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(730-732)agC>agT		transmembrane protein 151A							13.0	11.0	11.0					11																	66062449		2139	4137	6276	SO:0001819	synonymous_variant	256472					integral to membrane		g.chr11:66062449C>T	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.732C>T	11.37:g.66062449C>T							p.S244S	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	876	+			244					Q8ND14	Silent	SNP	ENST00000327259.4	37	c.732C>T	CCDS8133.1																																																																																				0.687	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		5	14	0	0	0	1	0	5	14				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	24	0	0	0	1	0	4	24				
ZBTB22	9278	broad.mit.edu	37	6	33283609	33283609	+	Missense_Mutation	SNP	C	C	T	rs147840428		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:33283609C>T	ENST00000431845.2	-	2	1236	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.R362H|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACTCAGGGTACGGACATCACT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17836	0.0		0.001	False		,,,				2504	0.0					ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1084-1086)cGt>cAt		zinc finger and BTB domain containing 22							110.0	104.0	106.0					6																	33283609		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283609C>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1085G>A	6.37:g.33283609C>T	ENSP00000407545:p.Arg362His					ZBTB22_ENST00000418724.1_Missense_Mutation_p.R362H	p.R362H	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1236	-			362					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1085G>A	CCDS4775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.73	2.624012	0.46840	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.10573	2.86;2.86	3.7	3.7	0.42460	.	.	.	.	.	T	0.10208	0.0250	L	0.39898	1.24	0.43569	D	0.995891	D	0.71674	0.998	P	0.54346	0.749	T	0.03695	-1.1012	9	0.62326	D	0.03	.	12.9838	0.58579	0.0:1.0:0.0:0.0	.	362	O15209	ZBT22_HUMAN	H	362	ENSP00000404403:R362H;ENSP00000407545:R362H	ENSP00000404403:R362H	R	-	2	0	ZBTB22	33391587	1.000000	0.71417	0.985000	0.45067	0.775000	0.43874	4.254000	0.58798	1.909000	0.55274	0.448000	0.29417	CGT		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			57	76	0	0	0	1	0	57	76				
FERD3L	222894	broad.mit.edu	37	7	19184842	19184842	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr7:19184842C>G	ENST00000275461.3	-	1	202	c.144G>C	c.(142-144)gaG>gaC	p.E48D	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	48					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TGGGTCTTCCCTCTCGGAGCG	0.657																																						ENST00000275461.3																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(142-144)gaG>gaC		Fer3-like bHLH transcription factor							54.0	41.0	46.0					7																	19184842		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184842C>G	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.144G>C	7.37:g.19184842C>G	ENSP00000275461:p.Glu48Asp					AC003986.5_ENST00000452700.1_RNA	p.E48D	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN			1	202	-			48					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.144G>C	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207687	0.06180	.	.	ENSG00000146618	ENST00000275461	D	0.96685	-4.09	5.25	-1.24	0.09435	.	1.605680	0.03176	N	0.171493	D	0.92038	0.7477	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.81805	-0.0764	10	0.23891	T	0.37	-9.9864	7.3465	0.26666	0.0:0.4596:0.1894:0.351	.	48	Q96RJ6	FER3L_HUMAN	D	48	ENSP00000275461:E48D	ENSP00000275461:E48D	E	-	3	2	FERD3L	19151367	0.014000	0.17966	0.013000	0.15412	0.141000	0.21300	-0.150000	0.10189	-0.798000	0.04444	-1.761000	0.00669	GAG		0.657	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			70	39	0	0	0	1	0	70	39				
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		8	256						8	256	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		7	27						7	27	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114262884	114262885	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr6:114262884_114262885insT	ENST00000519065.1	-	13	1799_1800	c.1423_1424insA	c.(1423-1425)acafs	p.T475fs	HDAC2_ENST00000368632.2_Frame_Shift_Ins_p.T445fs|HDAC2_ENST00000519108.1_Frame_Shift_Ins_p.T445fs|HDAC2_ENST00000398283.2_Frame_Shift_Ins_p.T569fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	475					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TTTGGTATCTGTTTTTTCACCA	0.282																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1423-1425)agafs		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001589	frameshift_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114262884_114262885insT	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1424dupA	6.37:g.114262890_114262890dupT	ENSP00000430432:p.Thr475fs					HDAC2_ENST00000398283.2_Frame_Shift_Ins_p.R569fs|HDAC2_ENST00000519108.1_Frame_Shift_Ins_p.R445fs|HDAC2_ENST00000368632.2_Frame_Shift_Ins_p.R445fs	p.R475fs			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	13	1799_1800	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	475					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Frame_Shift_Ins	INS	ENST00000519065.1	37	c.1423_1424insA	CCDS43493.2																																																																																				0.282	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			7	14						7	14	---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs60706203|rs66793222|rs143833222		TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr15:78913068_78913070delCAG	ENST00000326828.5	-	1	451_453	c.67_69delCTG	c.(67-69)ctgdel	p.L23del	CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del|CHRNA3_ENST00000559941.1_5'Flank	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	23			Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8906617, ECO:0000269|PubMed:9009220, ECO:0000269|PubMed:9921897}.		activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	gcagcagagacagcagcagcagc	0.768																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)del		cholinergic receptor, nicotinic, alpha 3 (neuronal)																																				SO:0001651	inframe_deletion	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78913068_78913070delCAG		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.67_69delCTG	15.37:g.78913077_78913079delCAG	ENSP00000315602:p.Leu23del					CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del	p.L23del	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			1	451_453	-			23		Missing.			Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	In_Frame_Del	DEL	ENST00000326828.5	37	c.67_69delCTG	CCDS10305.1																																																																																				0.768	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			4	3						4	3	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-	rs200555648	byFrequency	TCGA-QK-A6IH-01A-11D-A31L-08	TCGA-QK-A6IH-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a12f44d-7d6c-4480-9ffa-c80356f78232	30897199-87f7-452c-ab03-987cbd2c50e7	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del|MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.660	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	76						7	76	---	---	---	---
