#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TIE1	7075	broad.mit.edu	37	1	43777409	43777409	+	Silent	SNP	G	G	A	rs199811076	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43777409G>A	ENST00000372476.3	+	10	1480	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	TIE1_ENST00000433781.2_Silent_p.P112P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	467	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCTCCCCGCTGGTCTCGT	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17593	0.0		0.0	False		,,,				2504	0.0					uc001ciu.2		NA																	0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1399-1401)CCG>CCA		tyrosine kinase with immunoglobulin-like and							60.0	58.0	59.0					1																	43777409		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777409G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1401G>A	1.37:g.43777409G>A						TIE1_uc010okd.1_Silent_p.P467P|TIE1_uc010oke.1_Silent_p.P422P|TIE1_uc009vwq.2_Silent_p.P423P|TIE1_uc010okf.1_Silent_p.P112P|TIE1_uc010okg.1_Silent_p.P112P	p.P467P	NM_005424	NP_005415	P35590	TIE1_HUMAN			10	1480	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	467			Extracellular (Potential).|Fibronectin type-III 1.		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1401G>A	CCDS482.1																																																																																				0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		23	60	0	0	0	0	23	60				
MPL	4352	broad.mit.edu	37	1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43804269G>A	ENST00000372470.3	+	3	311	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MPL_ENST00000413998.2_Missense_Mutation_p.R90Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	90					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TTTGGAACCCGATACGTGTGC	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2		NA	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(268-270)CGA>CAA		myeloproliferative leukemia virus oncogene							113.0	98.0	103.0					1																	43804269		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43804269G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.269G>A	1.37:g.43804269G>A	ENSP00000361548:p.Arg90Gln					MPL_uc001civ.2_Missense_Mutation_p.R90Q|MPL_uc009vwr.2_Missense_Mutation_p.R83Q	p.R90Q	NM_005373	NP_005364	P40238	TPOR_HUMAN			3	314	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	90			Extracellular (Potential).		Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.269G>A	CCDS483.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987773	0.53934	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.69685	-0.42;-0.42	5.59	4.68	0.58851	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.131328	0.51477	N	0.000083	T	0.78861	0.4350	M	0.73598	2.24	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.69491	-0.5131	10	0.36615	T	0.2	-8.7946	10.5558	0.45117	0.0892:0.0:0.9108:0.0	.	83;90;90	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	Q	90	ENSP00000361548:R90Q;ENSP00000414004:R90Q	ENSP00000361546:R90Q	R	+	2	0	MPL	43576856	0.731000	0.28111	0.040000	0.18447	0.403000	0.30841	3.493000	0.53266	1.367000	0.46095	0.557000	0.71058	CGA		0.572	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		23	84	0	0	0	0	23	84				
PAQR6	79957	broad.mit.edu	37	1	156214599	156214599	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:156214599G>T	ENST00000292291.5	-	7	871	c.713C>A	c.(712-714)gCc>gAc	p.A238D	PAQR6_ENST00000368270.1_Missense_Mutation_p.A214D|PAQR6_ENST00000335852.1_Missense_Mutation_p.A132D|PAQR6_ENST00000540423.1_Missense_Mutation_p.A235D|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.A132D	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	238						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CAGGTGGGAGGCGAAGAGGAA	0.672																																					GBM(16;219 398 12385 32425 38531)	uc001fnu.1		NA																	0					0						c.(712-714)GCC>GAC		progestin and adipoQ receptor family member VI							44.0	46.0	45.0					1																	156214599		2203	4300	6503	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156214599G>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.713C>A	1.37:g.156214599G>T	ENSP00000292291:p.Ala238Asp					PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Missense_Mutation_p.P16T|PAQR6_uc001fnv.1_Missense_Mutation_p.A214D|PAQR6_uc010phg.1_Missense_Mutation_p.A235D|PAQR6_uc001fnx.1_Missense_Mutation_p.A132D|PAQR6_uc001fnw.1_Missense_Mutation_p.A132D|PAQR6_uc001fnz.1_Missense_Mutation_p.A132D|PAQR6_uc010phh.1_Missense_Mutation_p.A238D|PAQR6_uc001foa.1_Missense_Mutation_p.A132D|PAQR6_uc001fob.1_RNA	p.A238D	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN			7	783	-	Hepatocellular(266;0.158)		238			Helical; (Potential).		B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.713C>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270338	0.95429	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000340183;ENST00000368270;ENST00000540423	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	4.88	4.88	0.63580	.	0.306644	0.35805	N	0.002976	T	0.58977	0.2160	M	0.86953	2.85	0.53005	D	0.999967	P;D;P	0.76494	0.741;0.999;0.741	P;D;P	0.75484	0.756;0.986;0.756	T	0.66642	-0.5872	10	0.87932	D	0	-25.3717	15.5739	0.76359	0.0:0.0:1.0:0.0	.	235;132;238	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	D	238;132;132;132;257;214;235	ENSP00000292291:A238D;ENSP00000353961:A132D;ENSP00000338330:A132D;ENSP00000349474:A132D;ENSP00000341926:A257D;ENSP00000357253:A214D;ENSP00000443167:A235D	ENSP00000292291:A238D	A	-	2	0	PAQR6	154481223	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.461000	0.97646	2.538000	0.85594	0.462000	0.41574	GCC		0.672	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		15	42	1	0	0.00400662	0.00425967	15	42				
OR2M3	127062	broad.mit.edu	37	1	248366532	248366532	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:248366532C>A	ENST00000456743.1	+	1	201	c.163C>A	c.(163-165)Ctc>Atc	p.L55I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGACACCCAGCTCCACACCCC	0.557																																						uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(163-165)CTC>ATC		olfactory receptor, family 2, subfamily M,							324.0	302.0	309.0					1																	248366532		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366532C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.163C>A	1.37:g.248366532C>A	ENSP00000389625:p.Leu55Ile						p.L55I	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	163	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		55			Cytoplasmic (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.163C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743789	0.49151	.	.	ENSG00000228198	ENST00000456743	T	0.13778	2.56	2.44	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29328	U	0.012477	T	0.47192	0.1432	H	0.96691	3.865	0.25461	N	0.987917	D	0.89917	1.0	D	0.91635	0.999	T	0.46569	-0.9182	10	0.87932	D	0	.	9.9587	0.41682	0.0:0.8866:0.0:0.1134	.	55	Q8NG83	OR2M3_HUMAN	I	55	ENSP00000389625:L55I	ENSP00000389625:L55I	L	+	1	0	OR2M3	246433155	0.804000	0.28969	0.013000	0.15412	0.014000	0.08584	1.336000	0.33850	0.281000	0.22233	-1.111000	0.02071	CTC		0.557	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		114	271	1	0	1.55e-57	1.82e-57	114	271				
PTCHD3	374308	broad.mit.edu	37	10	27702649	27702649	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:27702649C>T	ENST00000438700.3	-	1	648	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	177					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCGCCTTGGCCGGGCTCCCCA	0.637																																						uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(529-531)CCG>CCA		patched domain containing 3							96.0	107.0	103.0					10																	27702649		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702649C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.531G>A	10.37:g.27702649C>T							p.P177P	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	649	-			177					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.531G>A	CCDS31173.1																																																																																				0.637	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		44	150	0	0	0	0	44	150				
KNDC1	85442	broad.mit.edu	37	10	135003312	135003312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:135003312G>A	ENST00000304613.3	+	9	1591	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	KNDC1_ENST00000368571.2_Missense_Mutation_p.E459K|KNDC1_ENST00000368572.2_Missense_Mutation_p.E524K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	524	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTGGTAACTGAAAAGGTACC	0.642																																						uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1570-1572)GAA>AAA		kinase non-catalytic C-lobe domain (KIND)							64.0	68.0	67.0					10																	135003312		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135003312G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1570G>A	10.37:g.135003312G>A	ENSP00000304437:p.Glu524Lys					KNDC1_uc001lma.1_Missense_Mutation_p.E459K	p.E524K	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	9	1571	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	524			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1570G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108459	0.56291	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.40225	1.04;1.04;1.04	3.9	3.9	0.45041	KIND (2);	0.088479	0.42964	U	0.000637	T	0.59101	0.2169	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;0.982	D;P	0.83275	0.996;0.758	T	0.62172	-0.6910	10	0.62326	D	0.03	-20.5718	11.7704	0.51956	0.0:0.0:1.0:0.0	.	459;524	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	K	524;524;459	ENSP00000304437:E524K;ENSP00000357561:E524K;ENSP00000357560:E459K	ENSP00000304437:E524K	E	+	1	0	KNDC1	134853302	0.999000	0.42202	0.694000	0.30210	0.090000	0.18270	4.613000	0.61176	1.884000	0.54569	0.573000	0.79308	GAA		0.642	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		5	25	0	0	0	0	5	25				
OR51G1	79324	broad.mit.edu	37	11	4944867	4944867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:4944867C>A	ENST00000321961.2	-	1	770	c.703G>T	c.(703-705)Gag>Tag	p.E235*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGAGTCGCTCCTGGTGGGAG	0.552																																						uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(703-705)GAG>TAG		olfactory receptor, family 51, subfamily G,							138.0	107.0	117.0					11																	4944867		2201	4298	6499	SO:0001587	stop_gained	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944867C>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.703G>T	11.37:g.4944867C>A	ENSP00000322546:p.Glu235*						p.E235*	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	703	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	235			Cytoplasmic (Potential).		B9EGW8|Q6IFH6	Nonsense_Mutation	SNP	ENST00000321961.2	37	c.703G>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793371	0.31685	.	.	ENSG00000176879	ENST00000321961	.	.	.	4.53	2.65	0.31530	.	0.000000	0.39759	U	0.001278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.3201	0.21213	0.0:0.6717:0.1548:0.1735	.	.	.	.	X	235	.	ENSP00000322546:E235X	E	-	1	0	OR51G1	4901443	0.000000	0.05858	0.269000	0.24586	0.108000	0.19459	0.757000	0.26433	0.542000	0.28846	-0.266000	0.10368	GAG		0.552	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		26	68	1	0	3.7e-22	4.33e-22	26	68				
BTBD10	84280	broad.mit.edu	37	11	13410506	13410506	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:13410506C>A	ENST00000278174.5	-	9	1545	c.1300G>T	c.(1300-1302)Gac>Tac	p.D434Y	BTBD10_ENST00000530907.1_Missense_Mutation_p.D442Y|BTBD10_ENST00000528120.1_Missense_Mutation_p.D386Y	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	434	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGGGAATGTCTGCTGCAGCT	0.488																																						uc001mkz.2		NA																	0					0						c.(1300-1302)GAC>TAC		K+ channel tetramerization protein							137.0	122.0	127.0					11																	13410506		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13410506C>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1300G>T	11.37:g.13410506C>A	ENSP00000278174:p.Asp434Tyr					BTBD10_uc010rcl.1_Missense_Mutation_p.D442Y|BTBD10_uc001mla.2_Missense_Mutation_p.D418Y|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.D386Y	p.D434Y	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	9	1557	-			434					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.1300G>T	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378307	0.82682	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.79845	-1.31;-1.31;-1.31	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	D	0.88735	0.3239	10	0.87932	D	0	2.1065	18.1526	0.89679	0.0:1.0:0.0:0.0	.	442;434;434	B7Z228;D3DQW7;Q9BSF8	.;.;BTBDA_HUMAN	Y	434;442;386	ENSP00000278174:D434Y;ENSP00000431186:D442Y;ENSP00000435257:D386Y	ENSP00000278174:D434Y	D	-	1	0	BTBD10	13367082	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.607000	0.88179	0.555000	0.69702	GAC		0.488	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		48	77	1	0	2.66e-43	3.13e-43	48	77				
MS4A15	219995	broad.mit.edu	37	11	60531293	60531293	+	Silent	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:60531293G>T	ENST00000405633.3	+	2	166	c.87G>T	c.(85-87)ctG>ctT	p.L29L	MS4A15_ENST00000528170.1_Silent_p.L29L|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	29						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CGGCCATTCTGCCCACATCCA	0.617																																						uc009ynf.1		NA																	0				lung(1)	1						c.(85-87)CTG>CTT		membrane-spanning 4-domains, subfamily A, member							92.0	93.0	92.0					11																	60531293		2027	4165	6192	SO:0001819	synonymous_variant	219995					integral to membrane	receptor activity	g.chr11:60531293G>T	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.87G>T	11.37:g.60531293G>T						MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Silent_p.L29L	p.L29L	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN			2	307	+			29					A9UJY6|A9UJY7|F2Z2J5	Silent	SNP	ENST00000405633.3	37	c.87G>T	CCDS44617.1																																																																																				0.617	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			37	88	1	0	1.01e-15	1.18e-15	37	88				
SCYL1	57410	broad.mit.edu	37	11	65303482	65303482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:65303482C>A	ENST00000270176.5	+	11	1522	c.1445C>A	c.(1444-1446)cCg>cAg	p.P482Q	SCYL1_ENST00000527009.1_Missense_Mutation_p.P339Q|SCYL1_ENST00000533862.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000279270.6_Missense_Mutation_p.P482Q|SCYL1_ENST00000524944.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000420247.2_Missense_Mutation_p.P482Q|SCYL1_ENST00000525364.1_Missense_Mutation_p.P482Q	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	482					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCGTTTGCACCGTCCCGGGTT	0.597																																						uc001oea.1		NA																	0				skin(1)	1						c.(1444-1446)CCG>CAG		SCY1-like 1 isoform A							75.0	76.0	76.0					11																	65303482		1917	4112	6029	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303482C>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1445C>A	11.37:g.65303482C>A	ENSP00000270176:p.Pro482Gln					SCYL1_uc009yqk.2_Missense_Mutation_p.P482Q|SCYL1_uc001oeb.1_Missense_Mutation_p.P482Q|SCYL1_uc001oec.1_Missense_Mutation_p.P482Q|SCYL1_uc001oed.1_Missense_Mutation_p.P339Q|SCYL1_uc001oee.1_Missense_Mutation_p.P126Q	p.P482Q	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			11	1522	+			482					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1445C>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328750	0.81690	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.247105	0.39909	N	0.001230	T	0.60983	0.2311	M	0.85197	2.74	0.58432	D	0.999993	D;D;D;P;D	0.89917	0.975;1.0;0.993;0.847;0.998	P;D;P;P;D	0.80764	0.869;0.994;0.877;0.685;0.981	T	0.66606	-0.5881	10	0.72032	D	0.01	-2.115	16.7806	0.85562	0.0:1.0:0.0:0.0	.	482;482;482;482;482	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	Q	482;482;482;482;482;482;482;482;339	ENSP00000270176:P482Q;ENSP00000431635:P482Q;ENSP00000408192:P482Q;ENSP00000437254:P482Q;ENSP00000433450:P482Q;ENSP00000279270:P482Q;ENSP00000432175:P482Q;ENSP00000436993:P339Q	ENSP00000270176:P482Q	P	+	2	0	SCYL1	65060058	0.997000	0.39634	0.862000	0.33874	0.541000	0.35023	5.100000	0.64560	2.577000	0.86979	0.462000	0.41574	CCG		0.597	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		18	63	1	0	4.72e-08	5.37e-08	18	63				
RCE1	9986	broad.mit.edu	37	11	66612399	66612399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:66612399G>A	ENST00000309657.3	+	5	555	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	RCE1_ENST00000525356.1_Missense_Mutation_p.A48T|RCE1_ENST00000524506.1_Missense_Mutation_p.A171T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	171					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCAAGTGATCGCCCCGCTGAC	0.632																																						uc001ojk.1		NA																	0				ovary(1)|breast(1)	2						c.(511-513)GCC>ACC		prenyl protein peptidase RCE1 isoform 1							37.0	36.0	36.0					11																	66612399		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66612399G>A	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.511G>A	11.37:g.66612399G>A	ENSP00000309163:p.Ala171Thr					RCE1_uc001ojl.1_Missense_Mutation_p.A67T	p.A171T	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN			5	555	+			171					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.511G>A	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714276	0.89112	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84334	0.0523	9	0.66056	D	0.02	-11.9072	14.627	0.68629	0.0:0.0:1.0:0.0	.	171	Q9Y256	FACE2_HUMAN	T	171;171;48	.	ENSP00000309163:A171T	A	+	1	0	RCE1	66368975	1.000000	0.71417	0.348000	0.25681	0.955000	0.61496	8.448000	0.90335	2.382000	0.81193	0.561000	0.74099	GCC		0.632	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		15	28	0	0	0	0	15	28				
SYTL2	54843	broad.mit.edu	37	11	85420460	85420460	+	Silent	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:85420460A>G	ENST00000528231.1	-	12	2191	c.1914T>C	c.(1912-1914)taT>taC	p.Y638Y	SYTL2_ENST00000529581.1_Silent_p.Y80Y|SYTL2_ENST00000359152.5_Silent_p.Y1484Y|SYTL2_ENST00000524452.1_Silent_p.Y614Y|SYTL2_ENST00000316356.4_Silent_p.Y639Y|SYTL2_ENST00000389960.4_Silent_p.Y614Y|SYTL2_ENST00000533892.1_Silent_p.Y40Y|SYTL2_ENST00000354566.3_Silent_p.Y976Y|SYTL2_ENST00000525423.1_Silent_p.Y960Y|SYTL2_ENST00000525702.1_Silent_p.Y80Y|SYTL2_ENST00000389958.3_Silent_p.Y69Y|SYTL2_ENST00000527523.1_Silent_p.Y606Y	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	638	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTGACTCCACATATTCAATTG	0.408																																						uc010rth.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(1912-1914)TAT>TAC		synaptotagmin-like 2 isoform g							127.0	121.0	123.0					11																	85420460		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85420460A>G	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1914T>C	11.37:g.85420460A>G						SYTL2_uc010rtg.1_Silent_p.Y639Y|SYTL2_uc010rti.1_Silent_p.Y614Y|SYTL2_uc010rtj.1_Silent_p.Y606Y|SYTL2_uc001pav.2_Silent_p.Y80Y|SYTL2_uc010rte.1_Silent_p.Y40Y|SYTL2_uc001pax.2_Silent_p.Y80Y|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_Silent_p.Y23Y|SYTL2_uc001pay.2_Silent_p.Y69Y|SYTL2_uc001paw.2_Silent_p.Y40Y|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.Y936Y|SYTL2_uc001pbb.2_Silent_p.Y976Y|SYTL2_uc001pbc.2_Silent_p.Y960Y|SYTL2_uc010rtf.1_Silent_p.Y456Y	p.Y638Y	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	12	2190	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	638			C2 1.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.1914T>C	CCDS53688.1																																																																																				0.408	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		6	121	0	0	0	0	6	121				
UBE4A	9354	broad.mit.edu	37	11	118263536	118263536	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:118263536G>A	ENST00000431736.2	+	19	3093	c.3021G>A	c.(3019-3021)ctG>ctA	p.L1007L	UBE4A_ENST00000545354.1_Silent_p.L472L|UBE4A_ENST00000252108.3_Silent_p.L1000L					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGAGCACACTGATGTGTGACC	0.483																																						uc001psw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(2998-3000)CTG>CTA		ubiquitination factor E4A							199.0	179.0	186.0					11																	118263536		2200	4296	6496	SO:0001819	synonymous_variant	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118263536G>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3021G>A	11.37:g.118263536G>A						UBE4A_uc001psv.2_Silent_p.L1007L	p.L1000L	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	19	3129	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1000			U-box.			Silent	SNP	ENST00000431736.2	37	c.3000G>A	CCDS8396.1																																																																																				0.483	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		56	86	0	0	0	0	56	86				
MLF2	8079	broad.mit.edu	37	12	6859160	6859160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:6859160C>T	ENST00000203630.5	-	7	1057	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MLF2_ENST00000539187.1_Missense_Mutation_p.R138Q|MLF2_ENST00000542154.1_Missense_Mutation_p.R138Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R138Q|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	138					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						AACAGTCCTCCGTGTCTCCCG	0.582																																						uc010sfi.1		NA																	0				large_intestine(1)	1						c.(412-414)CGG>CAG		myeloid leukemia factor 2							103.0	79.0	87.0					12																	6859160		2203	4300	6503	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6859160C>T	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.413G>A	12.37:g.6859160C>T	ENSP00000203630:p.Arg138Gln					MLF2_uc001qqp.2_Missense_Mutation_p.R138Q|MLF2_uc009zey.1_Missense_Mutation_p.R138Q	p.R138Q	NM_005439	NP_005430	Q15773	MLF2_HUMAN			7	476	-			138						Missense_Mutation	SNP	ENST00000203630.5	37	c.413G>A	CCDS8559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.195347|5.195347	0.94960|0.94960	.|.	.|.	ENSG00000089693|ENSG00000089693	ENST00000537126|ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.114289	.|0.64402	.|D	.|0.000017	T|T	0.76314|0.76314	0.3970|0.3970	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.72982	.|0.979	T|T	0.75822|0.75822	-0.3182|-0.3182	6|9	0.87932|0.59425	D|D	0|0.04	.|.	20.1237|20.1237	0.97972|0.97972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|138	.|Q15773	.|MLF2_HUMAN	R|Q	149|138	.|.	ENSP00000439789:G149R|ENSP00000203630:R138Q	G|R	-|-	1|2	0|0	MLF2|MLF2	6729421|6729421	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	4.483000|4.483000	0.60264|0.60264	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.582	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			15	64	0	0	0	0	15	64				
LRP6	4040	broad.mit.edu	37	12	12334328	12334328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:12334328C>T	ENST00000261349.4	-	6	1098	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	LRP6_ENST00000543091.1_Missense_Mutation_p.R341H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	341	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R341H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAAAGAAATGCGTCTCAAGTC	0.403																																						uc001rah.3		NA																	1	Substitution - Missense(1)	p.R341H(1)	lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(1021-1023)CGC>CAC		low density lipoprotein receptor-related protein							103.0	98.0	100.0					12																	12334328		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334328C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1022G>A	12.37:g.12334328C>T	ENSP00000261349:p.Arg341His					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R341H	p.R341H	NM_002336	NP_002327	O75581	LRP6_HUMAN			6	1164	-		Prostate(47;0.0865)	341			Extracellular (Potential).|Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1022G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287494	0.59976	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91631	-2.88;-2.88	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000010	D	0.91482	0.7311	M	0.77712	2.385	0.58432	D	0.999999	B;B	0.29378	0.012;0.243	B;B	0.23419	0.005;0.046	D	0.88708	0.3220	10	0.15499	T	0.54	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	341;341	F5H7J9;O75581	.;LRP6_HUMAN	H	341	ENSP00000261349:R341H;ENSP00000442472:R341H	ENSP00000261349:R341H	R	-	2	0	LRP6	12225595	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.699000	0.54778	2.752000	0.94435	0.655000	0.94253	CGC		0.403	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			34	81	0	0	0	0	34	81				
PTPRO	5800	broad.mit.edu	37	12	15699542	15699542	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:15699542C>A	ENST00000281171.4	+	13	2534	c.2204C>A	c.(2203-2205)aCc>aAc	p.T735N	PTPRO_ENST00000348962.2_Missense_Mutation_p.T735N|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000442921.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	735	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGAACAAAACCCAGACTTCA	0.388																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2203-2205)ACC>AAC		receptor-type protein tyrosine phosphatase O							91.0	86.0	88.0					12																	15699542		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15699542C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2204C>A	12.37:g.15699542C>A	ENSP00000281171:p.Thr735Asn					PTPRO_uc001rcw.1_Missense_Mutation_p.T735N|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR	p.T735N	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			13	2378	+		Hepatocellular(102;0.244)	735			Fibronectin type-III 8.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2204C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241640	0.79912	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;T	0.78246	0.3;-1.16	4.38	4.38	0.52667	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000060	T	0.80539	0.4642	L	0.29908	0.895	0.80722	D	1	D;D	0.64830	0.992;0.994	P;P	0.61592	0.866;0.891	T	0.82563	-0.0395	10	0.54805	T	0.06	.	17.5118	0.87762	0.0:1.0:0.0:0.0	.	735;735	Q16827-2;Q16827	.;PTPRO_HUMAN	N	735	ENSP00000281171:T735N;ENSP00000343434:T735N	ENSP00000281171:T735N	T	+	2	0	PTPRO	15590809	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.210000	0.72176	2.423000	0.82170	0.650000	0.86243	ACC		0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			5	21	1	0	0.000602214	0.000648786	5	21				
KRT83	3889	broad.mit.edu	37	12	52710276	52710276	+	Silent	SNP	G	G	A	rs143467763	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:52710276G>A	ENST00000293670.3	-	6	1079	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	339	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCACCTCGGCTGTCAGCC	0.597													N|||	6	0.00119808	0.0	0.0	5008	,	,		18637	0.0		0.001	False		,,,				2504	0.0051				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	uc001saf.2		NA																	0				skin(1)	1						c.(1015-1017)GCC>GCT		keratin 83		G		2,4404	4.2+/-10.8	0,2,2201	110.0	93.0	99.0		1017	-0.3	0.9	12	dbSNP_134	99	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	KRT83	NM_002282.3		0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461		339/494	52710276	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710276G>A	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1017C>T	12.37:g.52710276G>A							p.A339A	NM_002282	NP_002273	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1080	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		339			Rod.|Coil 2.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	c.1017C>T	CCDS8823.1																																																																																				0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		33	50	0	0	0	0	33	50				
ZCCHC8	55596	broad.mit.edu	37	12	122975114	122975114	+	Splice_Site	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:122975114C>T	ENST00000336229.4	-	4	448	c.318G>A	c.(316-318)aaG>aaA	p.K106K	ZCCHC8_ENST00000543897.1_5'UTR|SNORA9_ENST00000516383.1_RNA|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	106					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GATGATATTGCCTGTGTAAGA	0.328																																						uc001ucn.2		NA																	0					0						c.(316-318)AAG>AAA		zinc finger, CCHC domain containing 8							46.0	43.0	44.0					12																	122975114		1813	4076	5889	SO:0001630	splice_region_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122975114C>T	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.318-1G>A	12.37:g.122975114C>T						ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	p.K106K	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	4	449	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		106					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37	c.318G>A																																																																																					0.328	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	Silent	5	10	0	0	0	0	5	10				
FREM2	341640	broad.mit.edu	37	13	39265211	39265211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:39265211A>T	ENST00000280481.7	+	1	3946	c.3730A>T	c.(3730-3732)Aat>Tat	p.N1244Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1244					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCAGCTGATAAATGGCACGGT	0.438																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(3730-3732)AAT>TAT		FRAS1-related extracellular matrix protein 2							222.0	215.0	217.0					13																	39265211		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265211A>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3730A>T	13.37:g.39265211A>T	ENSP00000280481:p.Asn1244Tyr						p.N1244Y	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4039	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1244			CSPG 8.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3730A>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.785095	0.31593	.	.	ENSG00000150893	ENST00000280481	T	0.30448	1.53	6.01	4.85	0.62838	Cadherin (1);	0.094954	0.64402	D	0.000001	T	0.49440	0.1557	M	0.86343	2.81	0.52099	D	0.999948	D	0.54397	0.966	P	0.52554	0.702	T	0.56044	-0.8044	10	0.48119	T	0.1	.	11.5884	0.50931	0.931:0.0:0.069:0.0	.	1244	Q5SZK8	FREM2_HUMAN	Y	1244	ENSP00000280481:N1244Y	ENSP00000280481:N1244Y	N	+	1	0	FREM2	38163211	1.000000	0.71417	0.960000	0.40013	0.425000	0.31504	6.165000	0.71891	2.306000	0.77630	0.533000	0.62120	AAT		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		65	179	0	0	0	0	65	179				
UCHL3	7347	broad.mit.edu	37	13	76134943	76134943	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:76134943A>G	ENST00000377595.3	+	3	139	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	37					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGTATATGGAATGGATCCTGA	0.338																																						uc001vjq.2		NA																	0					0						c.(109-111)ATG>GTG		ubiquitin carboxyl-terminal esterase L3							119.0	107.0	111.0					13																	76134943		2203	4300	6503	SO:0001583	missense	7347				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr13:76134943A>G	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.109A>G	13.37:g.76134943A>G	ENSP00000366819:p.Met37Val					UCHL3_uc001vjr.2_Missense_Mutation_p.M1V	p.M37V	NM_006002	NP_005993	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)	3	139	+			37					B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	ENST00000377595.3	37	c.109A>G	CCDS9453.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129019	0.56721	.	.	ENSG00000118939	ENST00000377595	T	0.52295	0.67	5.81	5.81	0.92471	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	.	.	.	.	T	0.38692	0.1050	L	0.33485	1.01	0.35110	D	0.766031	B	0.25351	0.124	B	0.25405	0.06	T	0.51188	-0.8737	9	0.72032	D	0.01	.	11.2847	0.49216	0.864:0.0:0.0:0.136	.	37	P15374	UCHL3_HUMAN	V	37	ENSP00000366819:M37V	ENSP00000366819:M37V	M	+	1	0	UCHL3	75032944	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.670000	0.54569	2.217000	0.71921	0.482000	0.46254	ATG		0.338	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002		25	75	0	0	0	0	25	75				
CMTM5	116173	broad.mit.edu	37	14	23846483	23846483	+	Missense_Mutation	SNP	G	G	A	rs200320289		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:23846483G>A	ENST00000339180.4	+	1	239	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	CMTM5_ENST00000342473.4_Missense_Mutation_p.R8Q|CMTM5_ENST00000359320.3_Missense_Mutation_p.R8Q|CMTM5_ENST00000555731.1_Missense_Mutation_p.R8Q|CMTM5_ENST00000397227.3_Missense_Mutation_p.R8Q|CMTM5_ENST00000382809.2_Missense_Mutation_p.R8Q			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	8					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CGAGATCGCCGGGACCGGCAC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17837	0.0		0.0	False		,,,				2504	0.0					uc010akm.2		NA																	0					0						c.(22-24)CGG>CAG		chemokine-like factor superfamily 5 isoform a							72.0	77.0	75.0					14																	23846483		2203	4300	6503	SO:0001583	missense	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23846483G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.23G>A	14.37:g.23846483G>A	ENSP00000344819:p.Arg8Gln					CMTM5_uc001wjs.2_Missense_Mutation_p.R8Q|CMTM5_uc001wjt.2_Missense_Mutation_p.R8Q|CMTM5_uc010akn.2_Missense_Mutation_p.R8Q|CMTM5_uc001wju.2_Missense_Mutation_p.R8Q|CMTM5_uc010ako.2_RNA	p.R8Q	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	1	467	+	all_cancers(95;2e-05)		8					E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37	c.23G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.16	3.319139	0.60524	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180;ENST00000342473;ENST00000397227;ENST00000555731	T;T;T;T	0.59083	1.22;0.57;0.54;0.29	4.42	-0.645	0.11475	.	0.443402	0.19379	N	0.115704	T	0.29355	0.0731	N	0.17082	0.46	0.09310	N	0.999997	B;B;B;B;B	0.33940	0.003;0.433;0.043;0.116;0.014	B;B;B;B;B	0.29598	0.001;0.104;0.008;0.012;0.008	T	0.17349	-1.0372	10	0.62326	D	0.03	0.9085	0.4154	0.00448	0.259:0.1393:0.3178:0.2839	.	8;8;8;8;8	C9JAI6;Q96DZ9;Q96DZ9-5;E9PH91;Q96DZ9-2	.;CKLF5_HUMAN;.;.;.	Q	8	ENSP00000352270:R8Q;ENSP00000372259:R8Q;ENSP00000344819:R8Q;ENSP00000451514:R8Q	ENSP00000344819:R8Q	R	+	2	0	CMTM5	22916323	0.063000	0.20901	0.242000	0.24170	0.870000	0.49936	0.088000	0.14979	-0.106000	0.12110	-0.136000	0.14681	CGG		0.607	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			26	77	0	0	0	0	26	77				
ADAM20	8748	broad.mit.edu	37	14	70989374	70989374	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:70989374G>A	ENST00000256389.3	-	2	2495	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	701					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAACCAAAGGAAGAAGGCAC	0.383																																						uc001xme.2		NA																	0				skin(1)	1						c.(2251-2253)CCT>TCT		ADAM metallopeptidase domain 20 preproprotein							190.0	163.0	172.0					14																	70989374		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989374G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2251C>T	14.37:g.70989374G>A	ENSP00000256389:p.Pro751Ser						p.P751S	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2496	-			701			Helical; (Potential).		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.2251C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	4.866	0.161010	0.09287	.	.	ENSG00000134007	ENST00000256389	T	0.00922	5.54	4.17	-0.169	0.13339	.	2.893420	0.02479	U	0.088280	T	0.00784	0.0026	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47911	-0.9080	10	0.24483	T	0.36	.	2.5755	0.04805	0.1829:0.1455:0.5229:0.1488	.	701	O43506	ADA20_HUMAN	S	751	ENSP00000256389:P751S	ENSP00000256389:P751S	P	-	1	0	ADAM20	70059127	0.000000	0.05858	0.003000	0.11579	0.094000	0.18550	-0.490000	0.06482	0.000000	0.14550	0.650000	0.86243	CCT		0.383	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			36	74	0	0	0	0	36	74				
BTBD7	55727	broad.mit.edu	37	14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:93760396A>G	ENST00000334746.5	-	3	1277	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.Y324H|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y324H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	324	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418																																						uc001ybo.2		NA																	0				pancreas(1)	1						c.(970-972)TAT>CAT		BTB (POZ) domain containing 7 isoform 1							82.0	72.0	76.0					14																	93760396		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93760396A>G	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.970T>C	14.37:g.93760396A>G	ENSP00000335615:p.Tyr324His					BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.Y239H|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.Y239H|BTBD7_uc001ybr.2_Missense_Mutation_p.Y324H	p.Y324H	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	1296	-		all_cancers(154;0.08)	324			BTB 2.		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.970T>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782971	0.31593	.	.	ENSG00000011114	ENST00000334746;ENST00000553975;ENST00000298896;ENST00000555525	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	4.34	0.51931	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.991;0.994;0.998	T	0.76727	-0.2853	10	0.56958	D	0.05	.	11.9882	0.53159	0.8701:0.0:0.0:0.1299	.	324;324;324	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	H	324;34;324;324	ENSP00000335615:Y324H;ENSP00000298896:Y324H;ENSP00000451408:Y324H	ENSP00000298896:Y324H	Y	-	1	0	BTBD7	92830149	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.309000	0.78937	0.919000	0.36945	-0.259000	0.10710	TAT		0.418	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		3	69	0	0	0	0	3	69				
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	uc001ypk.2	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			breast|colorectal|ovarian|NSCLC		102	Substitution - Missense(102)	p.E17K(126)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134						c.(49-51)GAG>AAG		AKT1 kinase	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank	p.E17K	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	3	603	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17	E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8.	E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		8	19	0	0	0	0	8	19				
OR4N4	283694	broad.mit.edu	37	15	22383350	22383350	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:22383350A>G	ENST00000328795.4	+	1	969	c.878A>G	c.(877-879)gAa>gGa	p.E293G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CGCAACCAGGAAGTGAAAACT	0.408																																						uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(877-879)GAA>GGA		olfactory receptor, family 4, subfamily N,							85.0	79.0	81.0					15																	22383350		2188	4257	6445	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383350A>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.878A>G	15.37:g.22383350A>G	ENSP00000332500:p.Glu293Gly					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.E293G	p.E293G	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1859	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	293			Cytoplasmic (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.878A>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	14.96	2.691080	0.48097	.	.	ENSG00000183706	ENST00000328795	T	0.40225	1.04	3.2	3.2	0.36748	.	0.000000	0.48767	D	0.000176	T	0.52419	0.1733	M	0.65975	2.015	0.40296	D	0.978553	D	0.58620	0.983	P	0.55871	0.786	T	0.58691	-0.7592	10	0.87932	D	0	-4.6842	9.7407	0.40416	1.0:0.0:0.0:0.0	.	293	Q8N0Y3	OR4N4_HUMAN	G	293	ENSP00000332500:E293G	ENSP00000332500:E293G	E	+	2	0	OR4N4	19884714	1.000000	0.71417	0.995000	0.50966	0.274000	0.26718	6.382000	0.73167	1.454000	0.47793	0.332000	0.21555	GAA		0.408	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			16	140	0	0	0	0	16	140				
MAP1A	4130	broad.mit.edu	37	15	43821897	43821897	+	Silent	SNP	C	C	T	rs202171638		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:43821897C>T	ENST00000300231.5	+	5	8535	c.8085C>T	c.(8083-8085)ctC>ctT	p.L2695L	MAP1A_ENST00000382031.1_Silent_p.L2933L|MAP1A_ENST00000399453.1_Silent_p.L2695L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2695					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGTGGATCTCGCCTACATCC	0.517																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(8083-8085)CTC>CTT		microtubule-associated protein 1A	Estramustine(DB01196)						132.0	133.0	133.0					15																	43821897		2082	4230	6312	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821897C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8085C>T	15.37:g.43821897C>T							p.L2695L	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8552	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2695					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.8085C>T	CCDS42031.1																																																																																				0.517	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		28	89	0	0	0	0	28	89				
LPCAT2	54947	broad.mit.edu	37	16	55579722	55579722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr16:55579722A>G	ENST00000262134.5	+	9	1112	c.928A>G	c.(928-930)Atg>Gtg	p.M310V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	310					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGGAATTTAATGGCAGAGTA	0.299																																						uc002eie.3		NA																	0					0						c.(928-930)ATG>GTG		lysophosphatidylcholine acyltransferase 2							89.0	89.0	89.0					16																	55579722		2198	4299	6497	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55579722A>G	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.928A>G	16.37:g.55579722A>G	ENSP00000262134:p.Met310Val					LPCAT2_uc002eic.2_Missense_Mutation_p.M40V	p.M310V	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN			9	1109	+			310			Lumenal (Potential).		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.928A>G	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202653	0.79127	.	.	ENSG00000087253	ENST00000262134	D	0.91945	-2.94	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.93678	3.445	0.80722	D	1	D	0.55172	0.97	P	0.49887	0.625	D	0.96414	0.9306	10	0.72032	D	0.01	-52.6035	16.2061	0.82131	1.0:0.0:0.0:0.0	.	310	Q7L5N7	PCAT2_HUMAN	V	310	ENSP00000262134:M310V	ENSP00000262134:M310V	M	+	1	0	LPCAT2	54137223	1.000000	0.71417	0.944000	0.38274	0.913000	0.54294	7.788000	0.85771	2.311000	0.77944	0.533000	0.62120	ATG		0.299	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		7	77	0	0	0	0	7	77				
SMYD4	114826	broad.mit.edu	37	17	1704289	1704289	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:1704289C>T	ENST00000305513.7	-	5	566	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	133							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACCCATGTGTCTGTGCTCTGT	0.443																																						uc002ftm.3		NA																	0				skin(3)|kidney(2)	5						c.(397-399)CAG>CAA		SET and MYND domain containing 4							143.0	145.0	144.0					17																	1704289		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1704289C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.399G>A	17.37:g.1704289C>T						SMYD4_uc002ftn.1_5'UTR	p.Q133Q	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			5	567	-			133					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.399G>A	CCDS11013.1																																																																																				0.443	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		53	155	0	0	0	0	53	155				
DNAH9	1770	broad.mit.edu	37	17	11778325	11778325	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:11778325C>T	ENST00000262442.4	+	53	10370	c.10302C>T	c.(10300-10302)gaC>gaT	p.D3434D	DNAH9_ENST00000454412.2_Silent_p.D3434D|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3434	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGATGCTGACGTGGCTGCCT	0.592																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(10300-10302)GAC>GAT		dynein, axonemal, heavy chain 9 isoform 2							110.0	97.0	102.0					17																	11778325		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11778325C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10302C>T	17.37:g.11778325C>T						DNAH9_uc010coo.2_Silent_p.D2728D	p.D3434D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	53	10370	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3434			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.10302C>T	CCDS11160.1																																																																																				0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		35	83	0	0	0	0	35	83				
SUPT6H	6830	broad.mit.edu	37	17	27015218	27015218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:27015218C>T	ENST00000314616.6	+	24	3399	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	SUPT6H_ENST00000347486.4_Missense_Mutation_p.T1039M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1039	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGATCGACACGGCCTCCCTG	0.577																																						uc002hby.2		NA																	0				ovary(2)|skin(1)	3						c.(3115-3117)ACG>ATG		suppressor of Ty 6 homolog							126.0	117.0	120.0					17																	27015218		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27015218C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3116C>T	17.37:g.27015218C>T	ENSP00000319104:p.Thr1039Met					SUPT6H_uc010crt.2_Missense_Mutation_p.T1039M|SUPT6H_uc002hbz.1_5'Flank	p.T1039M	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			24	3206	+	Lung NSC(42;0.00431)		1039					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3116C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783945	0.70222	.	.	ENSG00000109111	ENST00000314616	.	.	.	4.95	4.95	0.65309	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83475	0.0061	9	0.35671	T	0.21	-9.408	18.5664	0.91118	0.0:1.0:0.0:0.0	.	1039	Q7KZ85	SPT6H_HUMAN	M	1039	.	ENSP00000319104:T1039M	T	+	2	0	SUPT6H	24039345	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.256000	0.78350	2.473000	0.83533	0.650000	0.86243	ACG		0.577	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		54	168	0	0	0	0	54	168				
KRT13	3860	broad.mit.edu	37	17	39658663	39658663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:39658663C>T	ENST00000246635.3	-	6	1253	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.A403T|KRT13_ENST00000336861.3_Missense_Mutation_p.A403T	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	403	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CGGTAGGTGGCGATCTCCTGC	0.597																																						uc002hwu.1		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1207-1209)GCC>ACC		keratin 13 isoform a							162.0	138.0	146.0					17																	39658663		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658663C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1207G>A	17.37:g.39658663C>T	ENSP00000246635:p.Ala403Thr					KRT13_uc002hwv.1_Missense_Mutation_p.A403T|KRT13_uc002hww.2_Missense_Mutation_p.A296T|KRT13_uc010wfr.1_Missense_Mutation_p.A296T|KRT13_uc010cxo.2_Missense_Mutation_p.A403T|KRT13_uc002hwx.1_Missense_Mutation_p.A391T	p.A403T	NM_153490	NP_705694	P13646	K1C13_HUMAN			6	1270	-		Breast(137;0.000286)	403			Rod.|Coil 2.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.1207G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448786	0.84101	.	.	ENSG00000171401	ENST00000246635;ENST00000336861	D;D	0.90900	-2.75;-2.75	4.45	4.45	0.53987	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.46758	D	0.000263	D	0.92054	0.7482	M	0.72576	2.205	0.49483	D	0.999796	P;P;P	0.45240	0.854;0.824;0.854	P;B;P	0.50537	0.643;0.362;0.643	D	0.91340	0.5096	10	0.38643	T	0.18	.	14.4627	0.67462	0.0:0.8412:0.1588:0.0	.	403;403;403	A1A4E9;P13646-3;P13646	.;.;K1C13_HUMAN	T	403	ENSP00000246635:A403T;ENSP00000336604:A403T	ENSP00000246635:A403T	A	-	1	0	KRT13	36912189	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.549000	0.45803	2.460000	0.83146	0.478000	0.44815	GCC		0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		48	103	0	0	0	0	48	103				
CBX8	57332	broad.mit.edu	37	17	77769025	77769025	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:77769025C>T	ENST00000269385.4	-	5	696	c.579G>A	c.(577-579)ggG>ggA	p.G193G	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	193					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCGAGCTGTCCCCCGGTGAGC	0.662																																						uc002jxd.1		NA																	0					0						c.(577-579)GGG>GGA		chromobox homolog 8							53.0	40.0	44.0					17																	77769025		2203	4300	6503	SO:0001819	synonymous_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77769025C>T	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.579G>A	17.37:g.77769025C>T							p.G193G	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	672	-			193					Q96H39|Q9NR07	Silent	SNP	ENST00000269385.4	37	c.579G>A	CCDS11765.1																																																																																				0.662	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		3	19	0	0	0	0	3	19				
LIPG	9388	broad.mit.edu	37	18	47110036	47110036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr18:47110036G>A	ENST00000261292.4	+	8	1546	c.1268G>A	c.(1267-1269)tGg>tAg	p.W423*	LIPG_ENST00000427224.2_Nonsense_Mutation_p.W349*	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	423	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCTCAGTCTTGGTACAACCTG	0.582																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2		NA																	0				ovary(1)|skin(1)	2						c.(1267-1269)TGG>TAG		endothelial lipase precursor							81.0	74.0	76.0					18																	47110036		2203	4300	6503	SO:0001587	stop_gained	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110036G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1268G>A	18.37:g.47110036G>A	ENSP00000261292:p.Trp423*					LIPG_uc010xdh.1_Nonsense_Mutation_p.W349*	p.W423*	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			8	1520	+			423			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Nonsense_Mutation	SNP	ENST00000261292.4	37	c.1268G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	40	7.985335	0.98596	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6841	19.6229	0.95667	0.0:0.0:1.0:0.0	.	.	.	.	X	423;349	.	ENSP00000261292:W423X	W	+	2	0	LIPG	45364034	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.553000	0.73918	2.648000	0.89879	0.561000	0.74099	TGG		0.582	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		24	73	0	0	0	0	24	73				
NOTCH3	4854	broad.mit.edu	37	19	15302992	15302992	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:15302992C>T	ENST00000263388.2	-	4	533	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	153	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.		Missing (in CADASIL). {ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:16009764}.|R -> C (in CADASIL). {ECO:0000269|PubMed:10371548, ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:11755616, ECO:0000269|PubMed:15229130, ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764, ECO:0000269|PubMed:9388399}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGGCAGCTGCGGCCCTGGTA	0.687																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(457-459)CGC>CAC		Notch homolog 3 precursor							19.0	22.0	21.0					19																	15302992		2198	4294	6492	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15302992C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.458G>A	19.37:g.15302992C>T	ENSP00000263388:p.Arg153His					NOTCH3_uc002nao.1_Missense_Mutation_p.R153H	p.R153H	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		4	534	-			153		Missing (in CADASIL).|R -> C (in CADASIL).	Extracellular (Potential).|EGF-like 3.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.458G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222533	0.39300	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.91686	-2.89	4.87	3.81	0.43845	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.87337	0.6152	L	0.35414	1.06	0.31049	N	0.715497	B;B	0.29766	0.166;0.256	B;B	0.29785	0.037;0.107	D	0.84204	0.0452	9	0.42905	T	0.14	.	12.5121	0.56011	0.0:0.9155:0.0:0.0844	.	156;153	Q59FL3;Q9UM47	.;NOTC3_HUMAN	H	153;155	ENSP00000263388:R153H	ENSP00000263388:R153H	R	-	2	0	NOTCH3	15163992	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.500000	0.35682	1.012000	0.39366	0.558000	0.71614	CGC		0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	23	0	0	0	0	12	23				
ZNF845	91664	broad.mit.edu	37	19	53854765	53854765	+	Silent	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:53854765C>A	ENST00000595091.1	+	5	1056	c.837C>A	c.(835-837)acC>acA	p.T279T	ZNF845_ENST00000458035.1_Silent_p.T279T			Q96IR2	ZN845_HUMAN	zinc finger protein 845	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTGGCAAGACCTTCAGTCAGG	0.423																																						uc010ydv.1		NA																	0					0						c.(835-837)ACC>ACA		zinc finger protein 845							101.0	83.0	88.0					19																	53854765		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854765C>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.837C>A	19.37:g.53854765C>A						ZNF845_uc010ydw.1_Silent_p.T279T	p.T279T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	954	+			279			C2H2-type 3.			Silent	SNP	ENST00000595091.1	37	c.837C>A	CCDS46170.1																																																																																				0.423	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		18	58	1	0	2.49e-13	2.89e-13	18	58				
C2orf16	84226	broad.mit.edu	37	2	27804538	27804538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:27804538G>A	ENST00000408964.2	+	1	5150	c.5099G>A	c.(5098-5100)aGg>aAg	p.R1700K	AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1700	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTCAGAGGAGCCATCGT	0.587																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(5098-5100)AGG>AAG		hypothetical protein LOC84226							151.0	154.0	153.0					2																	27804538		1917	4131	6048	SO:0001583	missense	84226							g.chr2:27804538G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5099G>A	2.37:g.27804538G>A	ENSP00000386190:p.Arg1700Lys					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.R1700K	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5150	+	Acute lymphoblastic leukemia(172;0.155)		1700			9.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5099G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503090	0.26949	.	.	ENSG00000221843	ENST00000408964	T	0.05139	3.49	2.59	1.7	0.24286	.	.	.	.	.	T	0.06962	0.0177	M	0.65498	2.005	0.09310	N	1	B	0.32071	0.355	B	0.27380	0.079	T	0.31696	-0.9934	9	0.32370	T	0.25	.	4.4179	0.11465	0.3174:0.0:0.6826:0.0	.	1700	Q68DN1	CB016_HUMAN	K	1700	ENSP00000386190:R1700K	ENSP00000386190:R1700K	R	+	2	0	C2orf16	27658042	0.034000	0.19679	0.003000	0.11579	0.002000	0.02628	0.614000	0.24314	0.643000	0.30638	0.462000	0.41574	AGG		0.587	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		8	237	0	0	0	0	8	237				
RMND5A	64795	broad.mit.edu	37	2	86947840	86947840	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:86947840A>T	ENST00000283632.4	+	1	545	c.50A>T	c.(49-51)aAg>aTg	p.K17M	CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	17										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCTGCACAAGTTCTCAGGC	0.687																																						uc010ytm.1		NA																	0				ovary(1)|skin(1)	2						c.(49-51)AAG>ATG		required for meiotic nuclear division 5 homolog							19.0	22.0	21.0					2																	86947840		2173	4290	6463	SO:0001583	missense	64795							g.chr2:86947840A>T	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.50A>T	2.37:g.86947840A>T	ENSP00000283632:p.Lys17Met					RMND5A_uc002srs.3_Translation_Start_Site|VPS24_uc010ytl.1_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.K17M	p.K17M	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN			1	427	+			17					D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	c.50A>T	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	a	22.2	4.260520	0.80246	.	.	ENSG00000153561	ENST00000283632	.	.	.	3.3	3.3	0.37823	.	0.000000	0.56097	D	0.000027	T	0.61739	0.2371	L	0.27053	0.805	0.45837	D	0.998701	D	0.76494	0.999	D	0.72338	0.977	T	0.65792	-0.6082	9	0.87932	D	0	-11.4416	11.8419	0.52359	1.0:0.0:0.0:0.0	.	17	Q9H871	RMD5A_HUMAN	M	17	.	ENSP00000283632:K17M	K	+	2	0	RMND5A	86801351	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.656000	0.74396	1.384000	0.46424	0.248000	0.18094	AAG		0.687	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		4	1	0	0	0	0	4	1				
CNTNAP5	129684	broad.mit.edu	37	2	125175049	125175049	+	Missense_Mutation	SNP	C	C	G	rs375524808	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125175049C>G	ENST00000431078.1	+	4	775	c.411C>G	c.(409-411)agC>agG	p.S137R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	137	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCTGACAGCGTGGTGCACC	0.488																																						uc002tno.2		NA																	0				ovary(10)	10						c.(409-411)AGC>AGG		contactin associated protein-like 5 precursor							88.0	89.0	89.0					2																	125175049		2005	4198	6203	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175049C>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.411C>G	2.37:g.125175049C>G	ENSP00000399013:p.Ser137Arg					CNTNAP5_uc010flu.2_Missense_Mutation_p.S137R	p.S137R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	775	+			137			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.411C>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528665	0.64860	.	.	ENSG00000155052	ENST00000431078	D	0.97505	-4.41	6.17	-7.2	0.01495	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.099067	0.43110	D	0.000609	D	0.97037	0.9032	M	0.66378	2.025	0.22926	N	0.998558	D	0.60575	0.988	P	0.60949	0.881	D	0.94065	0.7330	10	0.62326	D	0.03	.	18.2567	0.90022	0.0:0.3137:0.0:0.6863	.	137	Q8WYK1	CNTP5_HUMAN	R	137	ENSP00000399013:S137R	ENSP00000399013:S137R	S	+	3	2	CNTNAP5	124891519	0.000000	0.05858	0.575000	0.28536	0.993000	0.82548	-2.934000	0.00686	-1.495000	0.01831	-0.123000	0.14984	AGC		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	25	0	0	0	0	11	25				
CNTNAP5	129684	broad.mit.edu	37	2	125204332	125204332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125204332G>T	ENST00000431078.1	+	6	1100	c.736G>T	c.(736-738)Gac>Tac	p.D246Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	246	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCACAGGTGACAGCAAAGC	0.567																																						uc002tno.2		NA																	0				ovary(10)	10						c.(736-738)GAC>TAC		contactin associated protein-like 5 precursor							42.0	46.0	45.0					2																	125204332		2128	4260	6388	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204332G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.736G>T	2.37:g.125204332G>T	ENSP00000399013:p.Asp246Tyr					CNTNAP5_uc010flu.2_Missense_Mutation_p.D246Y	p.D246Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1100	+			246			Laminin G-like 1.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.736G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814913	0.70912	.	.	ENSG00000155052	ENST00000431078	T	0.79749	-1.3	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.128508	0.34828	N	0.003659	D	0.91068	0.7189	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.91413	0.5152	10	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	246	Q8WYK1	CNTP5_HUMAN	Y	246	ENSP00000399013:D246Y	ENSP00000399013:D246Y	D	+	1	0	CNTNAP5	124920802	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	9.628000	0.98415	2.941000	0.99782	0.655000	0.94253	GAC		0.567	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			15	53	1	0	1.68e-08	1.92e-08	15	53				
LRP1B	53353	broad.mit.edu	37	2	141598619	141598619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:141598619C>T	ENST00000389484.3	-	30	5953	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1661					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAAATTACGTGACACCCA	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4981-4983)CGT>CAT		low density lipoprotein-related protein 1B							135.0	125.0	129.0					2																	141598619		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598619C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4982G>A	2.37:g.141598619C>T	ENSP00000374135:p.Arg1661His	TSP Lung(27;0.18)					p.R1661H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	30	5954	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1661			Extracellular (Potential).|LDL-receptor class B 15.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4982G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463445	0.84425	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91740	-2.9	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.066897	0.56097	U	0.000027	D	0.93969	0.8069	M	0.64260	1.97	0.48341	D	0.999635	D	0.67145	0.996	P	0.53689	0.732	D	0.94199	0.7448	10	0.62326	D	0.03	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	1661	Q9NZR2	LRP1B_HUMAN	H	1661;1599	ENSP00000374135:R1661H	ENSP00000374135:R1661H	R	-	2	0	LRP1B	141315089	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.978000	0.56881	2.563000	0.86464	0.460000	0.39030	CGT		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		24	80	0	0	0	0	24	80				
TMEM198	130612	broad.mit.edu	37	2	220412472	220412472	+	Silent	SNP	C	C	T	rs202000579		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:220412472C>T	ENST00000344458.2	+	4	996	c.411C>T	c.(409-411)tcC>tcT	p.S137S	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Silent_p.S137S			Q66K66	TM198_HUMAN	transmembrane protein 198	137	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTGGGCTCCGCACCCTACT	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11537	0.0		0.0	False		,,,				2504	0.0					uc002vme.2		NA																	0				ovary(1)	1						c.(409-411)TCC>TCT		transmembrane protein 198							22.0	23.0	23.0					2																	220412472		2199	4297	6496	SO:0001819	synonymous_variant	130612					integral to membrane		g.chr2:220412472C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.411C>T	2.37:g.220412472C>T						TMEM198_uc002vmf.2_Silent_p.S137S	p.S137S	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	996	+		Renal(207;0.0376)	137			Leu-rich.			Silent	SNP	ENST00000344458.2	37	c.411C>T	CCDS33385.1																																																																																				0.716	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		12	32	0	0	0	0	12	32				
TGM3	7053	broad.mit.edu	37	20	2297758	2297758	+	Silent	SNP	C	C	T	rs201594514		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:2297758C>T	ENST00000381458.5	+	6	777	c.714C>T	c.(712-714)agC>agT	p.S238S	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	238					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGAATTGGAGCGGCACTTACA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20821	0.0		0.0	False		,,,				2504	0.0					uc002wfx.3		NA																	0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(712-714)AGC>AGT		transglutaminase 3 precursor	L-Glutamine(DB00130)						97.0	105.0	102.0					20																	2297758		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2297758C>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.714C>T	20.37:g.2297758C>T							p.S238S	NM_003245	NP_003236	Q08188	TGM3_HUMAN			6	811	+			238					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.714C>T	CCDS33435.1																																																																																				0.532	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		32	91	0	0	0	0	32	91				
ZNF512B	57473	broad.mit.edu	37	20	62631039	62631039	+	Intron	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:62631039G>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.R317H			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCATCAGCCCGCCTGGAAGAA	0.557																																						uc002yho.2		NA																	0				ovary(2)	2						c.(949-951)CGC>CAC		PRP6 pre-mRNA processing factor 6 homolog							78.0	67.0	70.0					20																	62631039		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62631039G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31731C>T	20.37:g.62631039G>A						PRPF6_uc002yhp.2_Missense_Mutation_p.R317H	p.R317H	NM_012469	NP_036601	O94906	PRP6_HUMAN			8	1118	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		317					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.950G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201601	0.94997	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.36157	1.27;1.27	5.53	4.57	0.56435	Tetratricopeptide-like helical (1);	0.093137	0.64402	D	0.000001	T	0.69387	0.3105	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.973	T	0.78666	-0.2115	10	0.87932	D	0	-11.7158	14.8138	0.70017	0.0705:0.0:0.9295:0.0	.	317;317	O94906-2;O94906	.;PRP6_HUMAN	H	317	ENSP00000266079:R317H;ENSP00000446216:R317H	ENSP00000266079:R317H	R	+	2	0	PRPF6	62101483	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.328000	0.79160	2.617000	0.88574	0.644000	0.83932	CGC		0.557	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		20	28	0	0	0	0	20	28				
ELFN2	114794	broad.mit.edu	37	22	37769728	37769728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr22:37769728C>T	ENST00000402918.2	-	3	2632	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	616					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCAGCTGGCGCTGTAGTGG	0.682																																						uc003asq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1846-1848)CGC>CAC		leucine rich repeat containing 62							11.0	9.0	10.0					22																	37769728		2118	4160	6278	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769728C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1847G>A	22.37:g.37769728C>T	ENSP00000385277:p.Arg616His						p.R616H	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2633	-	Melanoma(58;0.0574)		616			Cytoplasmic (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1847G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097751	0.76870	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.72051	-0.62;-0.62	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84599	0.0671	10	0.87932	D	0	-36.0804	17.7314	0.88378	0.0:1.0:0.0:0.0	.	616	Q5R3F8	PPR29_HUMAN	H	616	ENSP00000300147:R616H;ENSP00000385277:R616H	ENSP00000300147:R616H	R	-	2	0	ELFN2	36099674	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.508000	0.81686	2.160000	0.67779	0.498000	0.49722	CGC		0.682	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		7	8	0	0	0	0	7	8				
MORC1	27136	broad.mit.edu	37	3	108773723	108773723	+	Silent	SNP	G	G	A	rs7631480	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:108773723G>A	ENST00000483760.1	-	14	1225	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	MORC1_ENST00000232603.5_Silent_p.G394G					MORC family CW-type zinc finger 1									p.G394G(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCACGCCTGCGCCAAGTCTGA	0.303													g|||	11	0.00219649	0.0076	0.0	5008	,	,		16447	0.0		0.001	False		,,,				2504	0.0					uc003dxl.2		NA																	1	Substitution - coding silent(1)	p.G394G(1)	ovary(1)	ovary(3)|skin(3)|breast(2)	8						c.(1180-1182)GGC>GGT		MORC family CW-type zinc finger 1		A		34,4372	38.4+/-70.7	0,34,2169	73.0	70.0	71.0		1182	-6.0	0.6	3	dbSNP_116	71	0,8600		0,0,4300	no	coding-synonymous	MORC1	NM_014429.3		0,34,6469	AA,AG,GG		0.0,0.7717,0.2614		394/985	108773723	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773723G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1182C>T	3.37:g.108773723G>A						MORC1_uc011bhn.1_Silent_p.G394G	p.G394G	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			14	1269	-			394						Silent	SNP	ENST00000483760.1	37	c.1182C>T																																																																																					0.303	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			22	57	0	0	0	0	22	57				
XRN1	54464	broad.mit.edu	37	3	142103391	142103391	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:142103391G>T	ENST00000264951.4	-	21	2593	c.2476C>A	c.(2476-2478)Cct>Act	p.P826T	XRN1_ENST00000392981.2_Missense_Mutation_p.P826T	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	826					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAAACAAAAGGAACAACTTGT	0.308																																						uc003eus.2		NA																	0				ovary(3)	3						c.(2476-2478)CCT>ACT		5'-3' exoribonuclease 1 isoform a							119.0	117.0	118.0					3																	142103391		2203	4296	6499	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142103391G>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2476C>A	3.37:g.142103391G>T	ENSP00000264951:p.Pro826Thr					XRN1_uc010huu.2_Missense_Mutation_p.P292T|XRN1_uc003eut.2_Missense_Mutation_p.P826T|XRN1_uc003euu.2_Missense_Mutation_p.P826T|XRN1_uc003euv.1_Missense_Mutation_p.P687T	p.P826T	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			21	2543	-			826					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2476C>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573567	0.86542	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.30448	1.53;1.53	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	M	0.75264	2.295	0.80722	D	1	B;B;B	0.29085	0.031;0.232;0.23	B;B;B	0.26517	0.032;0.07;0.032	T	0.18650	-1.0330	10	0.23891	T	0.37	-13.5351	19.1915	0.93669	0.0:0.0:1.0:0.0	.	687;826;826	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	T	826	ENSP00000264951:P826T;ENSP00000376707:P826T	ENSP00000264951:P826T	P	-	1	0	XRN1	143586081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.491000	0.81471	2.528000	0.85240	0.650000	0.86243	CCT		0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		26	89	1	0	1.85e-09	2.12e-09	26	89				
TBC1D1	23216	broad.mit.edu	37	4	38023338	38023338	+	Splice_Site	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:38023338G>C	ENST00000261439.4	+	6	1564	c.1209G>C	c.(1207-1209)gaG>gaC	p.E403D	TBC1D1_ENST00000508802.1_Splice_Site_p.E403D	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	403	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGAGGATAGAGGGTGAGTAGG	0.552																																						uc003gtb.2		NA																	0				ovary(1)	1						c.(1207-1209)GAG>GAC		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							31.0	30.0	30.0					4																	38023338		2203	4300	6503	SO:0001630	splice_region_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38023338G>C	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1210+1G>C	4.37:g.38023338G>C						TBC1D1_uc011byd.1_Missense_Mutation_p.E403D|TBC1D1_uc010ifd.2_Missense_Mutation_p.E150D|TBC1D1_uc011byf.1_Missense_Mutation_p.E274D	p.E403D	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			6	1552	+			403			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.1209G>C	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.077916|3.077916	0.55753|0.55753	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803|ENST00000510573	T;T;T|.	0.28666|.	2.86;3.25;1.6|.	5.76|5.76	2.73|2.73	0.32206|0.32206	.|.	0.000000|.	0.64402|.	D|.	0.000017|.	T|T	0.47340|0.47340	0.1440|0.1440	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	P;P;B;P|.	0.49559|.	0.867;0.925;0.262;0.867|.	P;P;B;P|.	0.49708|.	0.62;0.57;0.053;0.62|.	T|T	0.45600|0.45600	-0.9250|-0.9250	10|5	0.62326|.	D|.	0.03|.	-31.162|-31.162	2.249|2.249	0.04039|0.04039	0.3434:0.0:0.4238:0.2329|0.3434:0.0:0.4238:0.2329	.|.	403;403;135;403|.	B9A6J6;E9PGH8;Q6PJJ8;Q86TI0|.	.;.;.;TBCD1_HUMAN|.	D|R	403;403;274|51	ENSP00000423651:E403D;ENSP00000261439:E403D;ENSP00000396877:E274D|.	ENSP00000261439:E403D|.	E|G	+|+	3|1	2|0	TBC1D1|TBC1D1	37699733|37699733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	2.435000|2.435000	0.44811|0.44811	1.446000|1.446000	0.47643|0.47643	0.591000|0.591000	0.81541|0.81541	GAG|GGG		0.552	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	Missense_Mutation	3	20	0	0	0	0	3	20				
SMARCAD1	56916	broad.mit.edu	37	4	95155227	95155227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:95155227C>T	ENST00000354268.4	+	4	564	c.491C>T	c.(490-492)aCt>aTt	p.T164I	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.T164I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	164	CUE 1. {ECO:0000255|PROSITE- ProRule:PRU00468}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		aaacttcagactttgaaggaa	0.373																																						uc003htc.3		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(490-492)ACT>ATT		SWI/SNF-related, matrix-associated							52.0	49.0	50.0					4																	95155227		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95155227C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.491C>T	4.37:g.95155227C>T	ENSP00000346217:p.Thr164Ile					SMARCAD1_uc003htb.3_Missense_Mutation_p.T164I|SMARCAD1_uc003htd.3_Missense_Mutation_p.T164I|SMARCAD1_uc010ila.2_Missense_Mutation_p.T27I	p.T164I	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	4	746	+			164			CUE 1.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.491C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579837	0.46006	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.16743	2.32;2.32;2.32	5.81	5.81	0.92471	Ubiquitin system component Cue (1);	0.185546	0.26045	N	0.026680	T	0.11922	0.0290	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.10200	-1.0640	10	0.44086	T	0.13	-2.9545	15.5785	0.76414	0.0:1.0:0.0:0.0	.	164;164	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	I	164	ENSP00000351947:T164I;ENSP00000415576:T164I;ENSP00000346217:T164I	ENSP00000346217:T164I	T	+	2	0	SMARCAD1	95374250	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.723000	0.54955	2.736000	0.93811	0.655000	0.94253	ACT		0.373	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		19	29	0	0	0	0	19	29				
ADH4	127	broad.mit.edu	37	4	100062705	100062705	+	Silent	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:100062705G>T	ENST00000265512.7	-	3	323	c.249C>A	c.(247-249)acC>acA	p.T83T	ADH4_ENST00000423445.1_Silent_p.T102T|ADH4_ENST00000508393.1_Silent_p.T102T|ADH4_ENST00000505590.1_Silent_p.T102T|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000504581.1_5'Flank	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	83					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GTTTGACGTTGGTCACTCCTG	0.398																																						uc003hun.2		NA																	0				skin(2)	2						c.(247-249)ACC>ACA		class II alcohol dehydrogenase, pi subunit	NADH(DB00157)						78.0	70.0	73.0					4																	100062705		2203	4300	6503	SO:0001819	synonymous_variant	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062705G>T	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.249C>A	4.37:g.100062705G>T						uc003hum.1_Intron|ADH4_uc011ced.1_Silent_p.T102T	p.T83T	NM_000670	NP_000661	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	3	325	-			83					A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	ENST00000265512.7	37	c.249C>A	CCDS34032.1																																																																																				0.398	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		21	42	1	0	0.00395357	0.00421436	21	42				
BRD9	65980	broad.mit.edu	37	5	878568	878568	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:878568C>T	ENST00000467963.1	-	11	1339	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Silent_p.S338S|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000323510.4_Silent_p.S295S|BRD9_ENST00000388890.4_Silent_p.S275S	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	391					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.S295S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TATTCTGCATCGAAAGCGCAG	0.567																																						uc003jbq.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(1171-1173)TCG>TCA		bromodomain containing 9 isoform 1							112.0	95.0	100.0					5																	878568		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:878568C>T	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1173G>A	5.37:g.878568C>T						BRD9_uc003jbl.2_Silent_p.S275S|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.S338S|BRD9_uc003jbo.2_Silent_p.S295S|BRD9_uc003jbp.2_Silent_p.S52S|BRD9_uc011cmc.1_RNA	p.S391S	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		11	1340	-			391					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.1173G>A	CCDS34127.2																																																																																				0.567	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		9	124	0	0	0	0	9	124				
ADAMTS12	81792	broad.mit.edu	37	5	33549375	33549375	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:33549375G>A	ENST00000504830.1	-	21	4574	c.4239C>T	c.(4237-4239)ccC>ccT	p.P1413P	ADAMTS12_ENST00000352040.3_Silent_p.P1328P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1413	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1413P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTCAATGGGGGAGGAATGC	0.612										HNSCC(64;0.19)																												uc003jia.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4237-4239)CCC>CCT		ADAM metallopeptidase with thrombospondin type 1							68.0	70.0	69.0					5																	33549375		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549375G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4239C>T	5.37:g.33549375G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.P1328P	p.P1413P	NM_030955	NP_112217	P58397	ATS12_HUMAN			21	4402	-			1413			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4239C>T	CCDS34140.1																																																																																				0.612	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		24	59	0	0	0	0	24	59				
RAI14	26064	broad.mit.edu	37	5	34824125	34824125	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:34824125C>T	ENST00000265109.3	+	15	2465	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	RAI14_ENST00000503673.1_Silent_p.N726N|RAI14_ENST00000512629.1_Silent_p.N697N|RAI14_ENST00000506376.1_Silent_p.N718N|RAI14_ENST00000397449.1_Silent_p.N719N|RAI14_ENST00000515799.1_Silent_p.N729N|RAI14_ENST00000428746.2_Silent_p.N726N	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	726						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAAAAGAGAACTCTGTCTCTA	0.408																																						uc003jir.2		NA																	0				ovary(1)	1						c.(2176-2178)AAC>AAT		retinoic acid induced 14 isoform a							83.0	81.0	82.0					5																	34824125		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824125C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2178C>T	5.37:g.34824125C>T						RAI14_uc010iur.2_Silent_p.N697N|RAI14_uc011coj.1_Silent_p.N726N|RAI14_uc003jis.2_Silent_p.N729N|RAI14_uc003jit.2_Silent_p.N726N|RAI14_uc011cok.1_Silent_p.N718N	p.N726N	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	2374	+	all_lung(31;0.000191)		726			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.2178C>T	CCDS34142.1																																																																																				0.408	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		25	33	0	0	0	0	25	33				
GPRIN1	114787	broad.mit.edu	37	5	176024594	176024594	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:176024594C>T	ENST00000303991.4	-	2	2419	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	748					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGCTCCACGCGGCCTTCA	0.687																																						uc003meo.1		NA																	0				ovary(2)	2						c.(2242-2244)GTG>ATG		G protein-regulated inducer of neurite outgrowth							12.0	14.0	13.0					5																	176024594		2192	4288	6480	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176024594C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.2242G>A	5.37:g.176024594C>T	ENSP00000305839:p.Val748Met						p.V748M	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	2417	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	748					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.2242G>A	CCDS4405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.76|10.76	1.439973|1.439973	0.25900|0.25900	.|.	.|.	ENSG00000169258|ENSG00000169258	ENST00000335532|ENST00000303991	.|T	.|0.09630	.|2.96	4.53|4.53	1.14|1.14	0.20703|0.20703	.|.	.|23.843500	.|0.01132	.|N	.|0.006019	.|T	.|0.09992	.|0.0245	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|P	.|0.46706	.|0.883	.|B	.|0.40038	.|0.317	.|T	.|0.25082	.|-1.0142	.|10	.|0.46703	.|T	.|0.11	.|19.1727	0.6716|0.6716	0.00859|0.00859	0.3174:0.2018:0.3095:0.1712|0.3174:0.2018:0.3095:0.1712	.|.	.|748	.|Q7Z2K8	.|GRIN1_HUMAN	.|M	-1|748	.|ENSP00000305839:V748M	.|ENSP00000305839:V748M	.|V	-|-	.|1	.|0	GPRIN1|GPRIN1	175957200|175957200	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.065000|0.065000	0.16274|0.16274	-2.093000|-2.093000	0.01353|0.01353	0.868000|0.868000	0.35678|0.35678	0.455000|0.455000	0.32223|0.32223	.|GTG		0.687	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		7	19	0	0	0	0	7	19				
CCHCR1	54535	broad.mit.edu	37	6	31112526	31112526	+	Missense_Mutation	SNP	C	C	T	rs111409280		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:31112526C>T	ENST00000376266.5	-	15	1960	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q	CCHCR1_ENST00000396268.3_Missense_Mutation_p.R702Q|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560Q|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666Q	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	613					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAGTTGCTCCCGCAGCCGAGT	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18670	0.0		0.0	False		,,,				2504	0.0					uc003nsr.3		NA																	0				skin(1)	1						c.(1837-1839)CGG>CAG		coiled-coil alpha-helical rod protein 1 isoform		C	GLN/ARG,GLN/ARG,GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	143.0	147.0	146.0		1997,2105,1838	3.1	0.5	6	dbSNP_132	146	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	CCHCR1	NM_001105563.1,NM_001105564.1,NM_019052.3	43,43,43	0,10,6493	TT,TC,CC		0.0349,0.1589,0.0769	probably-damaging,probably-damaging,probably-damaging	666/836,702/872,613/783	31112526	10,12996	2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31112526C>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1838G>A	6.37:g.31112526C>T	ENSP00000365442:p.Arg613Gln					CCHCR1_uc011dne.1_Missense_Mutation_p.R613Q|CCHCR1_uc003nsq.3_Missense_Mutation_p.R666Q|CCHCR1_uc003nsp.3_Missense_Mutation_p.R702Q|CCHCR1_uc010jsk.1_Missense_Mutation_p.R645Q	p.R613Q	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			15	1961	-			613			Potential.		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1838G>A	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041985	0.55003	0.001589	3.49E-4	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	4.96	3.11	0.35812	.	0.910388	0.09123	N	0.845437	T	0.09555	0.0235	M	0.67953	2.075	0.24276	N	0.995229	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;P;D;D	0.68621	0.943;0.959;0.752;0.928;0.934	T	0.23476	-1.0187	10	0.18276	T	0.48	-13.0498	7.1222	0.25450	0.0:0.7776:0.0:0.2224	.	613;613;613;666;702	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	Q	702;613;560;613;666	ENSP00000379566:R702Q;ENSP00000365442:R613Q;ENSP00000379561:R560Q;ENSP00000401039:R666Q	ENSP00000365442:R613Q	R	-	2	0	CCHCR1	31220505	1.000000	0.71417	0.506000	0.27664	0.840000	0.47671	2.873000	0.48475	0.455000	0.26910	0.448000	0.29417	CGG		0.597	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		53	106	0	0	0	0	53	106				
PHIP	55023	broad.mit.edu	37	6	79697996	79697996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:79697996C>T	ENST00000275034.4	-	21	2557	c.2390G>A	c.(2389-2391)cGt>cAt	p.R797H		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	797					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)	p.R797H(1)		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)		AGATCTTGTACGATAATTGTG	0.338																																						uc003pir.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(2389-2391)CGT>CAT		pleckstrin homology domain interacting protein							175.0	165.0	168.0					6																	79697996		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.chr6:79697996C>T	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.2390G>A	6.37:g.79697996C>T	ENSP00000275034:p.Arg797His					PHIP_uc011dyp.1_Missense_Mutation_p.R796H	p.R797H	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	21	2616	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	797					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2390G>A	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453945	0.63290	.	.	ENSG00000146247	ENST00000275034	T	0.43294	0.95	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.19525	0.0469	L	0.41236	1.265	0.50467	D	0.999879	B;B	0.19331	0.035;0.035	B;B	0.08055	0.003;0.003	T	0.04103	-1.0977	9	.	.	.	-11.4115	15.0893	0.72180	0.0:1.0:0.0:0.0	.	797;797	A7J992;Q8WWQ0	.;PHIP_HUMAN	H	797	ENSP00000275034:R797H	.	R	-	2	0	PHIP	79754715	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	2.902000	0.48703	2.296000	0.77279	0.585000	0.79938	CGT		0.338	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			5	101	0	0	0	0	5	101				
FOXO3	2309	broad.mit.edu	37	6	108984910	108984910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:108984910C>T	ENST00000343882.6	+	3	1178	c.874C>T	c.(874-876)Cct>Tct	p.P292S	FOXO3_ENST00000406360.1_Missense_Mutation_p.P292S|FOXO3_ENST00000540898.1_Missense_Mutation_p.P72S	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	292				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|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)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTCCAAGTGGCCTGGCAGCCC	0.622																																						uc003psk.2		NA																	0				central_nervous_system(4)|lung(2)	6						c.(874-876)CCT>TCT		forkhead box O3A							24.0	26.0	26.0					6																	108984910		2202	4298	6500	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984910C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.874C>T	6.37:g.108984910C>T	ENSP00000339527:p.Pro292Ser					FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.P292S|FOXO3_uc011ean.1_Missense_Mutation_p.P72S|FOXO3_uc010kdj.1_Missense_Mutation_p.P72S	p.P292S	NM_201559	NP_963853	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	3	1190	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	292	PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).				B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.874C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370818	0.24771	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91180	-2.8;-2.8	5.84	5.84	0.93424	.	0.096214	0.64402	D	0.000001	D	0.85496	0.5710	L	0.53780	1.695	0.80722	D	1	B	0.31837	0.342	B	0.28638	0.092	D	0.83722	0.0193	10	0.40728	T	0.16	-4.763	20.1432	0.98067	0.0:1.0:0.0:0.0	.	292	O43524	FOXO3_HUMAN	S	292;292;72;72	ENSP00000339527:P292S;ENSP00000385824:P292S	ENSP00000339527:P292S	P	+	1	0	FOXO3	109091603	1.000000	0.71417	0.999000	0.59377	0.021000	0.10359	4.567000	0.60850	2.769000	0.95229	0.561000	0.74099	CCT		0.622	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			4	32	0	0	0	0	4	32				
IFNGR1	3459	broad.mit.edu	37	6	137527279	137527279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:137527279G>A	ENST00000367739.4	-	3	488	c.367C>T	c.(367-369)Cga>Tga	p.R123*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.R95*|IFNGR1_ENST00000367735.2_Nonsense_Mutation_p.R113*|IFNGR1_ENST00000478333.1_5'Flank	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	123					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TCACCATCTCGGCATACAGCA	0.348																																						uc003qho.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(367-369)CGA>TGA		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						103.0	100.0	101.0					6																	137527279		2203	4300	6503	SO:0001587	stop_gained	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137527279G>A		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.367C>T	6.37:g.137527279G>A	ENSP00000356713:p.Arg123*					IFNGR1_uc011edm.1_Nonsense_Mutation_p.R95*|IFNGR1_uc011edn.1_Nonsense_Mutation_p.R113*	p.R123*	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	3	470	-	Colorectal(23;0.24)		123			Extracellular (Potential).		B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	ENST00000367739.4	37	c.367C>T	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953742	0.34471	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	.	.	.	5.67	-11.3	0.00108	.	0.976147	0.08408	N	0.950396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.7541	14.6163	0.68552	0.0:0.1159:0.2051:0.6789	.	.	.	.	X	123;123;95;89;113;113	.	ENSP00000356709:R113X	R	-	1	2	IFNGR1	137568972	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.153000	0.00284	-2.245000	0.00705	-0.182000	0.12963	CGA		0.348	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			7	118	0	0	0	0	7	118				
SYNE1	23345	broad.mit.edu	37	6	152763322	152763322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:152763322G>A	ENST00000367255.5	-	31	4497	c.3896C>T	c.(3895-3897)gCg>gTg	p.A1299V	SYNE1_ENST00000367248.3_Missense_Mutation_p.A1289V|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1299V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1306V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1365V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1306V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCCTGCTGCGCCTGCGCGAT	0.567										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3895-3897)GCG>GTG		spectrin repeat containing, nuclear envelope 1							78.0	69.0	72.0					6																	152763322		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763322G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3896C>T	6.37:g.152763322G>A	ENSP00000356224:p.Ala1299Val	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.A1306V|SYNE1_uc003qou.3_Missense_Mutation_p.A1299V|SYNE1_uc010kjb.1_Missense_Mutation_p.A1282V|SYNE1_uc003qow.2_Missense_Mutation_p.A594V|SYNE1_uc003qox.1_Missense_Mutation_p.A815V	p.A1299V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4498	-		Ovarian(120;0.0955)	1299			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3896C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	9.029	0.986883	0.18889	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87966	0.66;0.66;0.57;0.66;0.75;-2.22;-2.32;-2.32	5.41	1.52	0.23074	.	0.218874	0.31589	N	0.007392	D	0.85639	0.5743	M	0.65975	2.015	0.36317	D	0.85803	D;B;P;D;B;B	0.76494	0.999;0.222;0.896;0.999;0.222;0.33	P;B;B;D;B;B	0.64042	0.842;0.019;0.368;0.921;0.019;0.043	T	0.82680	-0.0337	10	0.39692	T	0.17	.	7.4196	0.27065	0.0627:0.3348:0.4872:0.1153	.	1282;1299;1289;1299;1299;1306	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	V	1299;1306;1299;1306;1365;1299;1289;1299	ENSP00000356224:A1299V;ENSP00000396024:A1306V;ENSP00000265368:A1299V;ENSP00000390975:A1306V;ENSP00000341887:A1365V;ENSP00000356222:A1299V;ENSP00000356217:A1289V;ENSP00000414510:A1299V	ENSP00000265368:A1299V	A	-	2	0	SYNE1	152805015	0.930000	0.31532	0.091000	0.20842	0.020000	0.10135	1.487000	0.35540	0.048000	0.15891	-0.843000	0.03049	GCG		0.567	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		22	91	0	0	0	0	22	91				
C7orf57	136288	broad.mit.edu	37	7	48081064	48081064	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:48081064A>G	ENST00000348904.3	+	3	401	c.189A>G	c.(187-189)atA>atG	p.I63M	C7orf57_ENST00000430738.1_Missense_Mutation_p.I108M|C7orf57_ENST00000420324.1_Missense_Mutation_p.I108M|C7orf57_ENST00000539619.1_Missense_Mutation_p.I63M|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	63										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GATACTGGATAAAAGAAACAG	0.592																																						uc003toh.3		NA																	0				ovary(1)	1						c.(187-189)ATA>ATG		hypothetical protein LOC136288							38.0	42.0	41.0					7																	48081064		1914	4130	6044	SO:0001583	missense	136288							g.chr7:48081064A>G	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.189A>G	7.37:g.48081064A>G	ENSP00000335500:p.Ile63Met					C7orf57_uc003toi.3_Translation_Start_Site	p.I63M	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			3	401	+			63					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.189A>G	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679452	0.68042	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.69	-5.27	0.02763	.	0.190366	0.42053	D	0.000769	T	0.49966	0.1588	M	0.73962	2.25	0.41683	D	0.989302	D	0.61080	0.989	P	0.61201	0.885	T	0.55263	-0.8168	10	0.72032	D	0.01	-47.4141	6.7698	0.23587	0.151:0.6319:0.1305:0.0866	.	63	Q8NEG2	CG057_HUMAN	M	108;108;63;63	ENSP00000394648:I108M;ENSP00000410944:I108M;ENSP00000335500:I63M;ENSP00000442474:I63M	ENSP00000335500:I63M	I	+	3	3	C7orf57	48047589	0.177000	0.23109	0.834000	0.33040	0.605000	0.37080	-1.100000	0.03339	-1.302000	0.02335	0.460000	0.39030	ATA		0.592	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		13	18	0	0	0	0	13	18				
RELN	5649	broad.mit.edu	37	7	103214639	103214639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:103214639C>T	ENST00000428762.1	-	30	4570	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	RELN_ENST00000424685.2_Missense_Mutation_p.G1471R|RELN_ENST00000343529.5_Missense_Mutation_p.G1471R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1471					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCAGTTCCAACCTGGGCA	0.512																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4411-4413)GGA>AGA		reelin isoform a							145.0	126.0	132.0					7																	103214639		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103214639C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4411G>A	7.37:g.103214639C>T	ENSP00000392423:p.Gly1471Arg					RELN_uc010liz.2_Missense_Mutation_p.G1471R	p.G1471R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	30	4571	-			1471					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4411G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801093	0.90538	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.50548	1.59;0.74;1.59	5.36	5.36	0.76844	.	0.114484	0.64402	D	0.000013	T	0.69006	0.3063	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	T	0.70270	-0.4918	10	0.62326	D	0.03	.	19.4429	0.94831	0.0:1.0:0.0:0.0	.	1471;1471	P78509-2;P78509	.;RELN_HUMAN	R	1471	ENSP00000392423:G1471R;ENSP00000345694:G1471R;ENSP00000388446:G1471R	ENSP00000345694:G1471R	G	-	1	0	RELN	103001875	1.000000	0.71417	0.967000	0.41034	0.975000	0.68041	5.711000	0.68400	2.669000	0.90835	0.655000	0.94253	GGA		0.512	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		8	123	0	0	0	0	8	123				
EPHB6	2051	broad.mit.edu	37	7	142563798	142563798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142563798G>A	ENST00000392957.2	+	9	1973	c.1186G>A	c.(1186-1188)Ggg>Agg	p.G396R	EPHB6_ENST00000411471.2_Missense_Mutation_p.G119R|EPHB6_ENST00000442129.1_Missense_Mutation_p.G396R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	396	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCGGGAGCTGGGGGGTCGAGG	0.652																																						uc011kst.1		NA																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1186-1188)GGG>AGG		ephrin receptor EphB6 precursor							26.0	24.0	25.0					7																	142563798		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142563798G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1186G>A	7.37:g.142563798G>A	ENSP00000376684:p.Gly396Arg					EPHB6_uc011ksu.1_Missense_Mutation_p.G396R|EPHB6_uc003wbs.2_Missense_Mutation_p.G104R|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.G104R|EPHB6_uc003wbv.2_5'Flank	p.G396R	NM_004445	NP_004436	O15197	EPHB6_HUMAN			9	1973	+	Melanoma(164;0.059)		396			Extracellular (Potential).|Fibronectin type-III 1.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1186G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005310	0.93287	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.57907	0.37;0.37;0.37	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42172	D	0.000751	T	0.77465	0.4134	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82835	-0.0261	10	0.87932	D	0	.	17.212	0.86932	0.0:0.0:1.0:0.0	.	396	O15197	EPHB6_HUMAN	R	396;396;119	ENSP00000376684:G396R;ENSP00000410789:G396R;ENSP00000409061:G119R	ENSP00000376684:G396R	G	+	1	0	EPHB6	142273920	1.000000	0.71417	0.983000	0.44433	0.945000	0.59286	9.808000	0.99193	2.289000	0.77006	0.462000	0.41574	GGG		0.652	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	19	0	0	0	0	7	19				
HR	55806	broad.mit.edu	37	8	21973915	21973915	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:21973915G>A	ENST00000381418.4	-	18	4885	c.3405C>T	c.(3403-3405)agC>agT	p.S1135S	HR_ENST00000312841.8_Silent_p.S1080S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1135	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCTGAGTGACGCTGACTGTGC	0.627																																						uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3403-3405)AGC>AGT		hairless protein isoform a							133.0	86.0	102.0					8																	21973915		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21973915G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3405C>T	8.37:g.21973915G>A						HR_uc003xat.2_Silent_p.S1080S	p.S1135S	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	18	4070	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	1135			JmjC.		Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.3405C>T	CCDS6022.1																																																																																				0.627	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			9	26	0	0	0	0	9	26				
KLF10	7071	broad.mit.edu	37	8	103664557	103664557	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:103664557C>T	ENST00000285407.6	-	2	405	c.105G>A	c.(103-105)gaG>gaA	p.E35E	KLF10_ENST00000395884.3_Silent_p.E24E	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	35					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AATCACTTTTCTCTGCAGTTT	0.358																																					Esophageal Squamous(16;495 519 2144 16528 44005)	uc011lhk.1		NA																	0					0						c.(103-105)GAG>GAA		Kruppel-like factor 10 isoform a							139.0	140.0	139.0					8																	103664557		2203	4300	6503	SO:0001819	synonymous_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664557C>T	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.105G>A	8.37:g.103664557C>T						KLF10_uc011lhj.1_Silent_p.E24E	p.E35E	NM_005655	NP_005646	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		2	259	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		35					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	ENST00000285407.6	37	c.105G>A	CCDS6294.1																																																																																				0.358	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			53	130	0	0	0	0	53	130				
GRIN1	2902	broad.mit.edu	37	9	140058119	140058119	+	Splice_Site	SNP	C	C	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr9:140058119C>G	ENST00000371561.3	+	17	3539	c.2442C>G	c.(2440-2442)gcC>gcG	p.A814A	GRIN1_ENST00000371555.4_Splice_Site_p.A835A|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Splice_Site_p.A835A|GRIN1_ENST00000371550.4_Splice_Site_p.A814A|GRIN1_ENST00000371559.4_Splice_Site_p.A814A|GRIN1_ENST00000371560.3_Splice_Site_p.A835A|GRIN1_ENST00000350902.5_Splice_Site_p.A814A|GRIN1_ENST00000315048.3_Splice_Site_p.A814A|GRIN1_ENST00000371553.3_Splice_Site_p.A835A	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	814					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGAACATGGCCGGTGCGTTCT	0.597																																					NSCLC(113;717 1653 2089 20474 37618)	uc004clk.2		NA																	0				skin(1)	1						c.(2440-2442)GCC>GCG		NMDA receptor 1 isoform NR1-3 precursor	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						79.0	68.0	72.0					9																	140058119		2203	4300	6503	SO:0001630	splice_region_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140058119C>G		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2443+1C>G	9.37:g.140058119C>G						GRIN1_uc004cli.1_Silent_p.A489A|GRIN1_uc004clj.1_Silent_p.A811A|GRIN1_uc004cll.2_Silent_p.A814A|GRIN1_uc004clm.2_Silent_p.A814A|GRIN1_uc004cln.2_Silent_p.A832A|GRIN1_uc004clo.2_Silent_p.A832A	p.A814A	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	17	2772	+	all_cancers(76;0.0926)		814			Helical; (Potential).		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	ENST00000371561.3	37	c.2442C>G	CCDS7031.1																																																																																				0.597	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327	Silent	13	40	0	0	0	0	13	40				
ASMT	438	broad.mit.edu	37	X	1755398	1755398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:1755398G>C	ENST00000381229.4	+	7	807	c.771G>C	c.(769-771)tgG>tgC	p.W257C	ASMT_ENST00000381233.3_Missense_Mutation_p.W210C|ASMT_ENST00000381241.3_Missense_Mutation_p.W285C			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	257					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	TCCATGACTGGGCAGACGGAA	0.567																																						uc004cqd.2		NA																	0				skin(1)	1						c.(853-855)TGG>TGC		acetylserotonin O-methyltransferase							351.0	310.0	324.0					X																	1755398		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1755398G>C	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.771G>C	X.37:g.1755398G>C	ENSP00000370627:p.Trp257Cys					ASMT_uc010ncy.2_Missense_Mutation_p.W285C|ASMT_uc004cqe.2_Missense_Mutation_p.W210C	p.W285C	NM_004043	NP_004034	P46597	HIOM_HUMAN			9	1000	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	257					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.855G>C		.	.	.	.	.	.	.	.	.	.	.	10.14	1.267367	0.23136	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233;ENST00000432523	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	2.33	2.33	0.28932	.	0.000000	0.85682	U	0.000000	T	0.78836	0.4346	H	0.98487	4.245	0.19300	N	0.99998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.73569	-0.3941	10	0.87932	D	0	.	12.6028	0.56506	0.0:0.0:1.0:0.0	.	210;285	P46597-2;P46597-3	.;.	C	285;257;210;36	ENSP00000370639:W285C;ENSP00000370627:W257C;ENSP00000370631:W210C;ENSP00000392053:W36C	ENSP00000370627:W257C	W	+	3	0	ASMT	1715398	1.000000	0.71417	0.065000	0.19835	0.041000	0.13682	6.966000	0.76073	0.958000	0.37956	0.453000	0.30009	TGG		0.567	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		56	143	0	0	0	0	56	143				
ARMCX5	64860	broad.mit.edu	37	X	101857876	101857876	+	Silent	SNP	T	T	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:101857876T>G	ENST00000604957.1	+	1	3429	c.807T>G	c.(805-807)ccT>ccG	p.P269P	ARMCX5_ENST00000372742.1_Silent_p.P269P|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.P269P|ARMCX5_ENST00000541409.1_Silent_p.P269P|ARMCX5_ENST00000537008.1_Silent_p.P269P|ARMCX5_ENST00000536530.1_Silent_p.P269P|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	269										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGATCCCACCTTATCATGGGC	0.488																																						uc004ejg.2		NA																	0				ovary(1)	1						c.(805-807)CCT>CCG		armadillo repeat containing, X-linked 5							101.0	94.0	97.0					X																	101857876		2203	4300	6503	SO:0001819	synonymous_variant	64860						binding	g.chrX:101857876T>G		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.807T>G	X.37:g.101857876T>G						ARMCX5_uc004ejh.2_Silent_p.P269P	p.P269P	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1688	+			269					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	ENST00000604957.1	37	c.807T>G	CCDS14500.1																																																																																				0.488	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		45	42	0	0	0	0	45	42				
MYO9A	4649	broad.mit.edu	37	15	72186069	72186071	+	In_Frame_Del	DEL	TCT	TCT	-	rs150726107	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:72186069_72186071delTCT	ENST00000356056.5	-	26	5563_5565	c.5091_5093delAGA	c.(5089-5094)gaagat>gat	p.E1697del	MYO9A_ENST00000564571.1_In_Frame_Del_p.E1697del|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_In_Frame_Del_p.E1697del|MYO9A_ENST00000444904.1_In_Frame_Del_p.E1678del	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1697	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTGGTTCATCTTCTTTATGGA	0.355																																						uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5089-5094)GAAGAT>GAT		myosin IXA																																				SO:0001651	inframe_deletion	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72186069_72186071delTCT	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5091_5093delAGA	15.37:g.72186072_72186074delTCT	ENSP00000348349:p.Glu1697del					MYO9A_uc002atn.1_In_Frame_Del_p.E1678del|MYO9A_uc002atk.2_In_Frame_Del_p.E421del|MYO9A_uc002atm.1_In_Frame_Del_p.E421del	p.E1697del	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			26	5564_5566	-			1697			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	In_Frame_Del	DEL	ENST00000356056.5	37	c.5091_5093delAGA	CCDS10239.1																																																																																				0.355	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	55	NA	NA	NA	NA	20	55	---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110763501	110763509	+	In_Frame_Del	DEL	AAAACGAGT	AAAACGAGT	-	rs149948718|rs367924021|rs146329765	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:110763501_110763509delAAAACGAGT	ENST00000368919.3	-	4	1187_1195	c.1121_1129delACTCGTTTT	c.(1120-1131)tactcgttttcc>tcc	p.YSF374del	RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_In_Frame_Del_p.YSF374del|SLC22A16_ENST00000330550.4_In_Frame_Del_p.YSF340del	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	374					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GAATTCAAGGAAAACGAGTAGAATCCCAA	0.378																																						uc003puf.2		NA																	0				ovary(1)	1						c.(1120-1131)TACTCGTTTTCC>TCC		solute carrier family 22, member 16																																				SO:0001651	inframe_deletion	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110763501_110763509delAAAACGAGT		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1121_1129delACTCGTTTT	6.37:g.110763501_110763509delAAAACGAGT	ENSP00000357915:p.Tyr374_Phe376del					SLC22A16_uc003pue.2_In_Frame_Del_p.YSF355del	p.YSF374del	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	4	1188_1196	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	374_376			Helical; (Potential).		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	In_Frame_Del	DEL	ENST00000368919.3	37	c.1121_1129delACTCGTTTT	CCDS5084.1																																																																																				0.378	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		13	76	NA	NA	NA	NA	13	76	---	---	---	---
